A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Contractile tissue that produces movement in animals.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
Unstriated and unstriped muscle, one of the muscles of the internal organs, blood vessels, hair follicles, etc. Contractile elements are elongated, usually spindle-shaped cells with centrally located nuclei. Smooth muscle fibers are bound together into sheets or bundles by reticular fibers and frequently elastic nets are also abundant. (From Stedman, 25th ed)
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
The nonstriated involuntary muscle tissue of blood vessels.
Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage.
A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)
Inflammation of a muscle or muscle tissue.
Skeletal muscle fibers characterized by their expression of the Type I MYOSIN HEAVY CHAIN isoforms which have low ATPase activity and effect several other functional properties - shortening velocity, power output, rate of tension redevelopment.
Skeletal muscle fibers characterized by their expression of the Type II MYOSIN HEAVY CHAIN isoforms which have high ATPase activity and effect several other functional properties - shortening velocity, power output, rate of tension redevelopment. Several fast types have been identified.
The musculofibrous partition that separates the THORACIC CAVITY from the ABDOMINAL CAVITY. Contraction of the diaphragm increases the volume of the thoracic cavity aiding INHALATION.
The amount of force generated by MUSCLE CONTRACTION. Muscle strength can be measured during isometric, isotonic, or isokinetic contraction, either manually or using a device such as a MUSCLE STRENGTH DYNAMOMETER.
The quadriceps femoris. A collective name of the four-headed skeletal muscle of the thigh, comprised of the rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)
The resection or removal of the innervation of a muscle or muscle tissue.
Muscular contractions characterized by increase in tension without change in length.
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (MYOBLASTS, SMOOTH MUSCLE).
Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)
The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.
The neck muscles consist of the platysma, splenius cervicis, sternocleidomastoid(eus), longus colli, the anterior, medius, and posterior scalenes, digastric(us), stylohyoid(eus), mylohyoid(eus), geniohyoid(eus), sternohyoid(eus), omohyoid(eus), sternothyroid(eus), and thyrohyoid(eus).
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
One of two types of muscle in the body, characterized by the array of bands observed under microscope. Striated muscles can be divided into two subtypes: the CARDIAC MUSCLE and the SKELETAL MUSCLE.
A device that measures MUSCLE STRENGTH during muscle contraction, such as gripping, pushing, and pulling. It is used to evaluate the health status of muscle in sports medicine or physical therapy.
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
Skeletal muscle structures that function as the MECHANORECEPTORS responsible for the stretch or myotactic reflex (REFLEX, STRETCH). They are composed of a bundle of encapsulated SKELETAL MUSCLE FIBERS, i.e., the intrafusal fibers (nuclear bag 1 fibers, nuclear bag 2 fibers, and nuclear chain fibers) innervated by SENSORY NEURONS.
That phase of a muscle twitch during which a muscle returns to a resting position.
The synapse between a neuron and a muscle.
Conical muscular projections from the walls of the cardiac ventricles, attached to the cusps of the atrioventricular valves by the chordae tendineae.
Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
The larger subunits of MYOSINS. The heavy chains have a molecular weight of about 230 kDa and each heavy chain is usually associated with a dissimilar pair of MYOSIN LIGHT CHAINS. The heavy chains possess actin-binding and ATPase activity.
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
The long cylindrical contractile organelles of STRIATED MUSCLE cells composed of ACTIN FILAMENTS; MYOSIN filaments; and other proteins organized in arrays of repeating units called SARCOMERES .
Muscles forming the ABDOMINAL WALL including RECTUS ABDOMINIS, external and internal oblique muscles, transversus abdominis, and quadratus abdominis. (from Stedman, 25th ed)
Muscles of facial expression or mimetic muscles that include the numerous muscles supplied by the facial nerve that are attached to and move the skin of the face. (From Stedman, 25th ed)
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (MUSCLE FIBERS, SKELETAL), cardiac (MYOCYTES, CARDIAC), and smooth (MYOCYTES, SMOOTH MUSCLE). They are derived from embryonic (precursor) muscle cells called MYOBLASTS.
Cell surface proteins that bind acetylcholine with high affinity and trigger intracellular changes influencing the behavior of cells. Cholinergic receptors are divided into two major classes, muscarinic and nicotinic, based originally on their affinity for nicotine and muscarine. Each group is further subdivided based on pharmacology, location, mode of action, and/or molecular biology.
An organophosphate insecticide that inhibits monoamine oxidase and acetylcholinesterase. It has been shown to be genotoxic.
A masticatory muscle whose action is closing the jaws.
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.
Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed)
Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.
Respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib, and contract during inspiration or respiration. (From Stedman, 25th ed)
A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)
The properties, processes, and behavior of biological systems under the action of mechanical forces.
A syndrome characterized by new neuromuscular symptoms that occur at least 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Clinical features include new muscular weakness and atrophy of the limbs, bulbar innervated musculature, and muscles of respiration, combined with excessive fatigue, joint pain, and reduced stamina. The process is marked by slow progression and periods of stabilization. (From Ann NY Acad Sci 1995 May 25;753:68-80)
The maximum volume of air that can be inspired after reaching the end of a normal, quiet expiration. It is the sum of the TIDAL VOLUME and the INSPIRATORY RESERVE VOLUME. Common abbreviation is IC.
Elements of limited time intervals, contributing to particular results or situations.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Neurons which activate MUSCLE CELLS.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The repeating contractile units of the MYOFIBRIL, delimited by Z bands along its length.
Elongated, spindle-shaped, quiescent myoblasts lying in close contact with adult skeletal muscle. They are thought to play a role in muscle repair and regeneration.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Embryonic (precursor) cells of the myogenic lineage that develop from the MESODERM. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes (MYOCYTES, SKELETAL; MYOCYTES, CARDIAC; MYOCYTES, SMOOTH MUSCLE).
An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)
Use of electric potential or currents to elicit biological responses.
The rotational force about an axis that is equal to the product of a force times the distance from the axis where the force is applied.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.
Therapeutic exercises aimed to deepen inspiration or expiration or even to alter the rate and rhythm of respiration.
The pectoralis major and pectoralis minor muscles that make up the upper and fore part of the chest in front of the AXILLA.
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
A characteristic symptom complex.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA.
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
The portion of the leg in humans and other animals found between the HIP and KNEE.
An intermediate filament protein found predominantly in smooth, skeletal, and cardiac muscle cells. Localized at the Z line. MW 50,000 to 55,000 is species dependent.
A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of SKELETAL MYOCYTES. Defects in the SCN4A gene, which codes for the alpha subunit of this sodium channel, are associated with several MYOTONIC DISORDERS.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
The act of BREATHING in.
A group of muscle diseases associated with abnormal mitochondria function.
Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle.
Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
A protein found in the thin filaments of muscle fibers. It inhibits contraction of the muscle unless its position is modified by TROPONIN.
Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.
A powerful flexor of the thigh at the hip joint (psoas major) and a weak flexor of the trunk and lumbar spinal column (psoas minor). Psoas is derived from the Greek "psoa", the plural meaning "muscles of the loin". It is a common site of infection manifesting as abscess (PSOAS ABSCESS). The psoas muscles and their fibers are also used frequently in experiments in muscle physiology.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Clinical sign or symptom manifested as debility, or lack or loss of strength and energy.
Either of two extremities of four-footed non-primate land animals. It usually consists of a FEMUR; TIBIA; and FIBULA; tarsals; METATARSALS; and TOES. (From Storer et al., General Zoology, 6th ed, p73)
Force exerted when gripping or grasping.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Manner or style of walking.
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
A masticatory muscle whose action is closing the jaws; its posterior portion retracts the mandible.
The muscles of the PHARYNX are voluntary muscles arranged in two layers. The external circular layer consists of three constrictors (superior, middle, and inferior). The internal longitudinal layer consists of the palatopharyngeus, the salpingopharyngeus, and the stylopharyngeus. During swallowing, the outer layer constricts the pharyngeal wall and the inner layer elevates pharynx and LARYNX.
Physical activity which is usually regular and done with the intention of improving or maintaining PHYSICAL FITNESS or HEALTH. Contrast with PHYSICAL EXERTION which is concerned largely with the physiologic and metabolic response to energy expenditure.
The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.
A cholinesterase inhibitor with a slightly longer duration of action than NEOSTIGMINE. It is used in the treatment of myasthenia gravis and to reverse the actions of muscle relaxants.
The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
A rapid-onset, short-acting cholinesterase inhibitor used in cardiac arrhythmias and in the diagnosis of myasthenia gravis. It has also been used as an antidote to curare principles.
The time span between the beginning of physical activity by an individual and the termination because of exhaustion.
Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
A type of strength-building exercise program that requires the body muscle to exert a force against some form of resistance, such as weight, stretch bands, water, or immovable objects. Resistance exercise is a combination of static and dynamic contractions involving shortening and lengthening of skeletal muscles.
A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
The specialized postsynaptic region of a muscle cell. The motor endplate is immediately across the synaptic cleft from the presynaptic axon terminal. Among its anatomical specializations are junctional folds which harbor a high density of cholinergic receptors.
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.
Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
The farthest or outermost projections of the body, such as the HAND and FOOT.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Drugs that inhibit cholinesterases. The neurotransmitter ACETYLCHOLINE is rapidly hydrolyzed, and thereby inactivated, by cholinesterases. When cholinesterases are inhibited, the action of endogenously released acetylcholine at cholinergic synapses is potentiated. Cholinesterase inhibitors are widely used clinically for their potentiation of cholinergic inputs to the gastrointestinal tract and urinary bladder, the eye, and skeletal muscles; they are also used for their effects on the heart and the central nervous system.
The physical activity of a human or an animal as a behavioral phenomenon.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The act of blowing a powder, vapor, or gas into any body cavity for experimental, diagnostic, or therapeutic purposes.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
The exercise capacity of an individual as measured by endurance (maximal exercise duration and/or maximal attained work load) during an EXERCISE TEST.
The projecting part on each side of the body, formed by the side of the pelvis and the top portion of the femur.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Difficult or labored breathing.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)
A pteridinetriamine compound that inhibits SODIUM reabsorption through SODIUM CHANNELS in renal EPITHELIAL CELLS.
A reduction in the amount of air entering the pulmonary alveoli.
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Drugs that interrupt transmission of nerve impulses at the skeletal neuromuscular junction. They can be of two types, competitive, stabilizing blockers (NEUROMUSCULAR NONDEPOLARIZING AGENTS) or noncompetitive, depolarizing agents (NEUROMUSCULAR DEPOLARIZING AGENTS). Both prevent acetylcholine from triggering the muscle contraction and they are used as anesthesia adjuvants, as relaxants during electroshock, in convulsive states, etc.
Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis. Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis. (From Joynt, Clinical Neurology, 1997, Ch 54, p3)
Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle.
A type of stress exerted uniformly in all directions. Its measure is the force exerted per unit area. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A network of tubules and sacs in the cytoplasm of SKELETAL MUSCLE FIBERS that assist with muscle contraction and relaxation by releasing and storing calcium ions.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
The inferior part of the lower extremity between the KNEE and the ANKLE.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
A glucocorticoid with the general properties of the corticosteroids. It is the drug of choice for all conditions in which routine systemic corticosteroid therapy is indicated, except adrenal deficiency states.
A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). "General paresis" and "general paralysis" may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.
Pathological processes involving the PHARYNX.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
The act of breathing with the LUNGS, consisting of INHALATION, or the taking into the lungs of the ambient air, and of EXHALATION, or the expelling of the modified air which contains more CARBON DIOXIDE than the air taken in (Blakiston's Gould Medical Dictionary, 4th ed.). This does not include tissue respiration (= OXYGEN CONSUMPTION) or cell respiration (= CELL RESPIRATION).
A condition of an abnormally low level of PHOSPHATES in the blood.
A growth differentiation factor that is a potent inhibitor of SKELETAL MUSCLE growth. It may play a role in the regulation of MYOGENESIS and in muscle maintenance during adulthood.
Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.
A tetrameric calcium release channel in the SARCOPLASMIC RETICULUM membrane of SMOOTH MUSCLE CELLS, acting oppositely to SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. It is important in skeletal and cardiac excitation-contraction coupling and studied by using RYANODINE. Abnormalities are implicated in CARDIAC ARRHYTHMIAS and MUSCULAR DISEASES.
Any method of artificial breathing that employs mechanical or non-mechanical means to force the air into and out of the lungs. Artificial respiration or ventilation is used in individuals who have stopped breathing or have RESPIRATORY INSUFFICIENCY to increase their intake of oxygen (O2) and excretion of carbon dioxide (CO2).
The study of the generation and behavior of electrical charges in living organisms particularly the nervous system and the effects of electricity on living organisms.
A regimen or plan of physical activities designed and prescribed for specific therapeutic goals. Its purpose is to restore normal musculoskeletal function or to reduce pain caused by diseases or injuries.
The position or attitude of the body.
A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.
Apparatus used to support, align, prevent, or correct deformities or to improve the function of movable parts of the body.
Expenditure of energy during PHYSICAL ACTIVITY. Intensity of exertion may be measured by rate of OXYGEN CONSUMPTION; HEAT produced, or HEART RATE. Perceived exertion, a psychological measure of exertion, is included.
The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.
Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II.
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
An element in the alkali group of metals with an atomic symbol K, atomic number 19, and atomic weight 39.10. It is the chief cation in the intracellular fluid of muscle and other cells. Potassium ion is a strong electrolyte that plays a significant role in the regulation of fluid volume and maintenance of the WATER-ELECTROLYTE BALANCE.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (1/934)

Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.  (+info)

Mice with IFN-gamma receptor deficiency are less susceptible to experimental autoimmune myasthenia gravis. (2/934)

IFN-gamma can either adversely or beneficially affect certain experimental autoimmune diseases. To study the role of IFN-gamma in the autoantibody-mediated experimental autoimmune myasthenia gravis (EAMG), an animal model of myasthenia gravis in humans, IFN-gammaR-deficient (IFN-gammaR-/-) mutant C57BL/6 mice and congenic wild-type mice were immunized with Torpedo acetylcholine receptor (AChR) plus CFA. IFN-gammaR-/- mice exhibited significantly lower incidence and severity of muscle weakness, lower anti-AChR IgG Ab levels, and lower Ab affinity to AChR compared with wild-type mice. Passive transfer of serum from IFN-gammaR-/- mice induced less muscular weakness compared with serum from wild-type mice. In contrast, numbers of lymph node cells secreting IFN-gamma and of those expressing IFN-gamma mRNA were strongly augmented in the IFN-gammaR-/- mice, reflecting a failure of negative feedback circuits. Cytokine studies by in situ hybridization revealed lower levels of lymphoid cells expressing AChR-reactive IL-1beta and TNF-alpha mRNA in AChR + CFA-immunized IFN-gammaR-/- mice compared with wild-type mice. No differences were found for AChR-reactive cells expressing IL-4, IL-10, or TGF-beta mRNA. These results indicate that IFN-gamma promotes systemic humoral responses in EAMG by up-regulating the production and the affinity of anti-AChR autoantibodies, thereby contributing to susceptibility to EAMG in C57BL/6-type mice.  (+info)

Contribution of lung function to exercise capacity in patients with chronic heart failure. (3/934)

BACKGROUND: The importance of exercise capacity as an indicator of prognosis in patients with heart disease is well recognized. However, factors contributing to exercise limitation in such patients have not been fully characterized and in particular, the role of lung function in determining exercise capacity has not been extensively investigated. OBJECTIVE: To examine the extent to which pulmonary function and respiratory muscle strength indices predict exercise performance in patients with moderate to severe heart failure. METHODS: Fifty stable heart failure patients underwent a maximal symptom-limited cardiopulmonary exercise test on a treadmill to determine maximum oxygen consumption (VO2max), pulmonary function tests and maximum inspiratory (PImax) and expiratory (PEmax) pressure measurement. RESULTS: In univariate analysis, VO2max correlated with forced vital capacity (r = 0.35, p = 0.01), forced expiratory volume in 1 s (r = 0.45, p = 0.001), FEV1/FVC ratio (r = 0.37, p = 0.009), maximal midexpiratory flow rate (FEF25-75, r = 0. 47, p < 0.001), and PImax (r = 0.46, p = 0.001), but not with total lung capacity, diffusion capacity or PEmax. In stepwise linear regression analysis, FEF25-75 and PImax were shown to be independently related to VO2max, with a combined r and r2 value of 0. 56 and 0.32, respectively. CONCLUSIONS: Lung function indices overall accounted for only approximately 30% of the variance in maximum exercise capacity observed in heart failure patients. The mechanism(s) by which these variables could set exercise limitation in heart failure awaits further investigation.  (+info)

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. (4/934)

We recently described an autosomal dominant inclusion-body myopathy characterized by congenital joint contractures, external ophthalmoplegia, and predominantly proximal muscle weakness. A whole-genome scan, performed with 161 polymorphic markers and with DNA from 40 members of one family, indicated strong linkage for markers on chromosome 17p. After analyses with additional markers in the region and with DNA from eight additional family members, a maximum LOD score (Zmax) was detected for marker D17S1303 (Zmax=7.38; recombination fraction (theta)=0). Haplotype analyses showed that the locus (Genome Database locus name: IBM3) is flanked distally by marker D17S945 and proximally by marker D17S969. The positions of cytogenetically localized flanking markers suggest that the location of the IBM3 gene is in chromosome region 17p13.1. Radiation hybrid mapping showed that IBM3 is located in a 2-Mb chromosomal region and that the myosin heavy-chain (MHC) gene cluster, consisting of at least six genes, co-localizes to the same region. This localization raises the possibility that one of the MHC genes clustered in this region may be involved in this disorder.  (+info)

Myasthenic syndrome of snake envenomation: a clinical and neurophysiological study. (5/934)

In this prospective study, 65 consecutive patients with neurological manifestations after snake envenomation, were examined in order to describe the natural history of the reversible nature of muscle weakness. Snake envenoming led to a completely reversible muscle paralysis involving the external ocular muscles with sparing of the pupils, muscles of mastication, facial muscles, palatal muscles, neck and proximal limb muscles. The deep tendon reflexes were preserved with no sensory abnormalities. The muscular weakness usually set in within an hour of envenomation and lasted up to 10 days, with fatigability lasting for 12 days. Respiratory muscle paralysis led to ventilatory failure needing ventilation in severely envenomed patients. Motor and sensory nerve conduction were normal with normal resting compound motor action potentials on electromyography. Repetitive nerve stimulation gave rise to a decremental response during high frequency stimulation. The edrophonium test gave negative results. These manifestations are due to abnormalities of neuromuscular transmission and are not typical of myasthenia gravis. As the exact pathophysiology of venom-related neurotoxicity is not known, it is suggested that the neurological manifestations of snake envenoming be designated a myasthenic syndrome. Further studies to isolate the neurotoxin and its mechanism and exact site of blocking at the neuromuscular junction would pave the way for the development of a novel long-acting neuromuscular blocking agent.  (+info)

MR imaging of Dejerine-Sottas disease. (6/934)

We report the MR findings in two patients with clinically and histologically proved Dejerine-Sottas disease. One patient had spinal involvement with multiple thickened and clumped nerve roots of the cauda equina; the second had multiple enlarged and enhancing cranial nerves. Although these findings are not specific for Dejerine-Sottas disease, they are suggestive of the diagnosis, which is further corroborated with history and confirmed with sural nerve biopsy and laboratory studies.  (+info)

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. (7/934)

Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal hypotonia and congenital contractures which are of a dynamic nature during childhood. The course of Bethlem myopathy in adult patients is less benign than previously thought. Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair.  (+info)

Mechanisms of nasal tolerance induction in experimental autoimmune myasthenia gravis: identification of regulatory cells. (8/934)

Autoantigen administration via nasal mucosal tissue can induce systemic tolerance more effectively than oral administration in a number of experimental autoimmune diseases, including Ab-mediated experimental autoimmune myasthenia gravis, a murine model of myasthenia gravis. The mechanisms underlying nasal tolerance induction are not clear. In this study, we show that nasal administration of acetylcholine receptor (AChR) in C57BL/6 mice, before immunizations with AChR in adjuvant, results in delayed onset and reduced muscle weakness compared with control mice. The delayed onset and reduced muscle weakness were associated with decreased AChR-specific lymphocyte proliferation and decreased levels of anti-AChR Abs of the IgG2a and IgG2b isotypes in serum. The clinical and immunological changes in the AChR-pretreated C57BL/6 wild-type (wt) mice were comparable with those observed in AChR-pretreated CD8-/- mice, indicating that CD8+ T cells were not required for the generation of nasal tolerance. AChR-pretreated wt and CD8-/- mice showed augmented TGF-beta and reduced IFN-gamma responses, whereas levels of IL-4 were unaltered. Splenocytes from AChR-pretreated wt and CD8-/- mice, but not from CD4-/- mice, suppressed AChR-specific lymphocyte proliferation. This suppression could be blocked by Abs against TGF-beta. Thus, our results demonstrate that the suppression induced in the present model is independent of CD8+ T cells and suggest the involvement of Ag-specific CD4+ Th3 cells producing TGF-beta.  (+info)

There are several causes of muscle weakness, including:

1. Neuromuscular diseases: These are disorders that affect the nerves that control voluntary muscle movement, such as amyotrophic lateral sclerosis (ALS) and polio.
2. Musculoskeletal disorders: These are conditions that affect the muscles, bones, and joints, such as arthritis and fibromyalgia.
3. Metabolic disorders: These are conditions that affect the body's ability to produce energy, such as hypoglycemia and hypothyroidism.
4. Injuries: Muscle weakness can occur due to injuries such as muscle strains and tears.
5. Infections: Certain infections such as botulism and Lyme disease can cause muscle weakness.
6. Nutritional deficiencies: Deficiencies in vitamins and minerals such as vitamin D and B12 can cause muscle weakness.
7. Medications: Certain medications such as steroids and anticonvulsants can cause muscle weakness as a side effect.

The symptoms of muscle weakness can vary depending on the underlying cause, but may include:

1. Fatigue: Feeling tired or weak after performing simple tasks.
2. Lack of strength: Difficulty lifting objects or performing physical activities.
3. Muscle cramps: Spasms or twitches in the muscles.
4. Muscle wasting: Loss of muscle mass and tone.
5. Difficulty speaking or swallowing: In cases where the muscle weakness affects the face, tongue, or throat.
6. Difficulty walking or standing: In cases where the muscle weakness affects the legs or lower back.
7. Droopy facial features: In cases where the muscle weakness affects the facial muscles.

If you are experiencing muscle weakness, it is important to seek medical attention to determine the underlying cause and receive proper treatment. A healthcare professional will perform a physical examination and may order diagnostic tests such as blood tests or imaging studies to help diagnose the cause of the muscle weakness. Treatment will depend on the underlying cause, but may include medication, physical therapy, or lifestyle changes. In some cases, muscle weakness may be a sign of a serious underlying condition that requires prompt medical attention.

The term "nemaline" refers to the rod-like structures that are found in the muscle fibers of people with this condition. These structures are composed of abnormally folded myofibrils (the basic units of muscle tissue) and are thought to be caused by faulty protein synthesis or degradation.

Nemaline myopathy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific mutations that cause the condition. The disorder is usually diagnosed through muscle biopsy and genetic testing. Treatment options are limited and may include physical therapy, bracing, and medications to manage symptoms such as muscle spasms and weakness.

The progression of nemaline myopathy can vary widely among individuals, with some experiencing mild symptoms while others may have more severe muscle weakness and wasting. In some cases, the disorder may be associated with other medical conditions such as intellectual disability, seizures, or congenital anomalies.

The exact prevalence of nemaline myopathy is not known, but it is estimated to affect approximately 1 in 50,000 to 1 in 100,000 individuals worldwide. The disorder can occur at any age, but most cases are diagnosed in infancy or childhood. With advances in medical technology and ongoing research, there is hope for improved treatment options and management strategies for nemaline myopathy in the future.

1. Muscular dystrophy: A group of genetic disorders characterized by progressive muscle weakness and degeneration.
2. Myopathy: A condition where the muscles become damaged or diseased, leading to muscle weakness and wasting.
3. Fibromyalgia: A chronic condition characterized by widespread pain, fatigue, and muscle stiffness.
4. Rhabdomyolysis: A condition where the muscle tissue is damaged, leading to the release of myoglobin into the bloodstream and potentially causing kidney damage.
5. Polymyositis/dermatomyositis: Inflammatory conditions that affect the muscles and skin.
6. Muscle strain: A common injury caused by overstretching or tearing of muscle fibers.
7. Cervical dystonia: A movement disorder characterized by involuntary contractions of the neck muscles.
8. Myasthenia gravis: An autoimmune disorder that affects the nerve-muscle connection, leading to muscle weakness and fatigue.
9. Oculopharyngeal myopathy: A condition characterized by weakness of the muscles used for swallowing and eye movements.
10. Inclusion body myositis: An inflammatory condition that affects the muscles, leading to progressive muscle weakness and wasting.

These are just a few examples of the many different types of muscular diseases that can affect individuals. Each condition has its unique set of symptoms, causes, and treatment options. It's important for individuals experiencing muscle weakness or wasting to seek medical attention to receive an accurate diagnosis and appropriate care.

1. Muscular dystrophy: A group of genetic disorders that cause progressive muscle weakness and degeneration.
2. Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death.
3. Spinal muscular atrophy: A genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement.
4. Peripheral neuropathy: A condition that causes damage to the peripheral nerves, leading to weakness, numbness, and pain in the hands and feet.
5. Myasthenia gravis: An autoimmune disorder that affects the nerve-muscle connection, causing muscle weakness and fatigue.
6. Neuropathy: A term used to describe damage to the nerves, which can cause a range of symptoms including numbness, tingling, and pain in the hands and feet.
7. Charcot-Marie-Tooth disease: A group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and wasting.
8. Guillain-Barré syndrome: An autoimmune disorder that causes inflammation and damage to the nerves, leading to muscle weakness and paralysis.
9. Botulism: A bacterial infection that can cause muscle weakness and paralysis by blocking the release of the neurotransmitter acetylcholine.
10. Myotonia congenita: A genetic disorder that affects the nerve-muscle connection, causing muscle stiffness and rigidity.

These are just a few examples of neuromuscular diseases, and there are many more conditions that can cause muscle weakness and fatigue. It's important to see a doctor if you experience persistent or severe symptoms to receive an accurate diagnosis and appropriate treatment.

There are several types of muscular atrophy, including:

1. Disuse atrophy: This type of atrophy occurs when a muscle is not used for a long period, leading to its degeneration.
2. Neurogenic atrophy: This type of atrophy occurs due to damage to the nerves that control muscles.
3. Dystrophic atrophy: This type of atrophy occurs due to inherited genetic disorders that affect muscle fibers.
4. Atrophy due to aging: As people age, their muscles can degenerate and lose mass and strength.
5. Atrophy due to disease: Certain diseases such as cancer, HIV/AIDS, and muscular dystrophy can cause muscular atrophy.
6. Atrophy due to infection: Infections such as polio and tetanus can cause muscular atrophy.
7. Atrophy due to trauma: Traumatic injuries can cause muscular atrophy, especially if the injury is severe and leads to prolonged immobilization.

Muscular atrophy can lead to a range of symptoms depending on the type and severity of the condition. Some common symptoms include muscle weakness, loss of motor function, muscle wasting, and difficulty performing everyday activities. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, medication, and lifestyle changes such as exercise and dietary modifications. In severe cases, surgery may be necessary to restore muscle function.

Polymyositis can affect people of all ages, but it most commonly occurs in adults between the ages of 30 and 60. It is more common in women than men, and the symptoms can vary in severity. The disease may be acute or chronic, and it can affect one or more muscle groups.

The symptoms of polymyositis include:

* Muscle weakness and fatigue
* Pain in the affected muscles
* Wasting of the affected muscles
* Difficulty swallowing (in severe cases)
* Shortness of breath (in severe cases)

The diagnosis of polymyositis is based on a combination of clinical findings, laboratory tests, and imaging studies. Laboratory tests may include blood tests to check for muscle enzymes and inflammatory markers, such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Imaging studies, such as magnetic resonance imaging (MRI), can help to confirm the diagnosis and assess the extent of the disease.

There is no cure for polymyositis, but treatment can help to manage the symptoms and slow the progression of the disease. Treatment options may include:

* Corticosteroids to reduce inflammation
* Immunosuppressive drugs to suppress the immune system
* Physical therapy to maintain muscle strength and function
* Pain management with analgesics and other medications
* Plasmapheresis to remove antibodies from the blood

The prognosis for polymyositis varies, depending on the severity of the disease and the response to treatment. In general, the prognosis is better for patients who have a mild form of the disease and who respond well to treatment. However, in severe cases, the disease can be life-threatening, and mortality rates are estimated to be as high as 20% to 30%.

1. Polymyositis: This is an inflammatory disease that affects the muscles and can cause muscle weakness, pain, and stiffness.
2. Dercum's disease: This is a rare condition that causes fatty degeneration of the muscles, leading to muscle pain, weakness, and wasting.
3. Inflammatory myopathy: This is a group of conditions that cause inflammation in the muscles, leading to muscle weakness and pain.
4. Dermatomyositis: This is an inflammatory condition that affects both the skin and the muscles, causing skin rashes and muscle weakness.
5. Juvenile myositis: This is a rare condition that affects children and can cause muscle weakness, pain, and stiffness.

The symptoms of myositis can vary depending on the type of condition and its severity. Common symptoms include muscle weakness, muscle pain, stiffness, and fatigue. Other symptoms may include skin rashes, fever, and joint pain.

The diagnosis of myositis typically involves a combination of physical examination, medical history, and laboratory tests such as blood tests and muscle biopsies. Treatment for myositis depends on the underlying cause and may include medications such as corticosteroids, immunosuppressive drugs, and physical therapy. In some cases, surgery may be necessary to remove affected muscle tissue.

The symptoms of dermatomyositis can vary in severity and may include:

* Rashes and lesions on the skin, particularly on the face, neck, and hands
* Muscle weakness and fatigue
* Joint pain and stiffness
* Swelling and redness in the affected areas
* Fever
* Headaches
* Fatigue

Dermatomyositis is often associated with other autoimmune disorders, such as polymyositis, and can be triggered by certain medications or infections. There is no cure for dermatomyositis, but treatment options are available to manage the symptoms and prevent complications. Treatment may include medications such as corticosteroids, immunosuppressive drugs, and physical therapy to maintain muscle strength and flexibility.

The term "dermatomyositis" is derived from the Greek words "derma," meaning skin, "myo," meaning muscle, and "-itis," indicating inflammation. The condition was first described in the medical literature in the early 20th century, and since then has been studied extensively to better understand its causes and develop effective treatments.

In summary, dermatomyositis is a rare autoimmune disease that affects both the skin and muscles, causing inflammation and various symptoms such as rashes, weakness, and joint pain. While there is no cure for the condition, treatment options are available to manage the symptoms and prevent complications.

The symptoms of hypokalemic periodic paralysis can vary in severity and may include:

* Muscle weakness or paralysis, typically affecting the legs but sometimes affecting the arms or face as well
* Muscle cramps and twitching
* Abnormal heart rhythms
* Weakness or paralysis of the respiratory muscles, which can lead to breathing difficulties
* Vision problems, such as blurred vision or double vision
* Dizziness and fainting

The exact cause of hypokalemic periodic paralysis is not known, but it is thought to be related to mutations in certain genes that affect the way potassium ions are regulated in the body. The disorder is usually diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis.

There is no cure for hypokalemic periodic paralysis, but treatment options may include:

* Potassium supplements to maintain normal potassium levels in the blood
* Medications to regulate heart rhythms and prevent abnormal heartbeats
* Physical therapy to improve muscle strength and function
* Avoiding triggers such as stress, certain medications, or changes in potassium levels
* In severe cases, a pacemaker may be implanted to regulate the heartbeat.

It is important to note that hypokalemic periodic paralysis can be a challenging disorder to manage and may have a significant impact on quality of life. However, with proper treatment and management, many individuals with this condition are able to lead active and fulfilling lives.

Examples of structural congenital myopathies include:

* Centronuclear myopathy (CNM): This is a rare genetic disorder that affects the centrioles, which are structures in the muscle fibers that help to maintain their shape and function. People with CNM may have muscle weakness, poor muscle tone, and other symptoms.
* Multiminicore disease (MMC): This is a rare genetic disorder that affects the structure of the muscle fibers, leading to muscle weakness and wasting. People with MMC may have difficulty walking, talking, and other physical activities.
* Myotubular myopathy: This is a rare genetic disorder that affects the formation of muscle fibers in the body. People with myotubular myopathy may have muscle weakness, poor muscle tone, and other symptoms.

There are also other types of myopathies that can be caused by genetic mutations, such as:

* Inflammatory myopathies: These are caused by inflammation in the muscles and can lead to muscle weakness and other symptoms. Examples include polymyositis and dermatomyositis.
* Metabolic myopathies: These are caused by problems with the metabolism of the muscles and can lead to muscle weakness and other symptoms. Examples include hypokalemic periodic paralysis and carnitine palmitoyltransferase II (CPTII) deficiency.
* Endocrine myopathies: These are caused by hormonal imbalances and can lead to muscle weakness and other symptoms. Examples include hypothyroidism and hyperthyroidism.

There is no cure for structural myopathies, but there are various treatments available to manage the symptoms and improve quality of life. These may include:

* Physical therapy: This can help improve muscle strength and function.
* Medications: These can be used to manage pain, inflammation, and other symptoms. Examples include nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids.
* Assistive devices: These can help individuals with structural myopathies perform daily activities more easily. Examples include wheelchairs, walkers, and orthotics.
* Surgery: In some cases, surgery may be necessary to correct anatomical abnormalities or release compressed nerves.

It's important to note that the specific treatment plan for structural myopathies will depend on the underlying cause of the condition and the severity of the symptoms. It's important to work with a healthcare provider to develop an individualized treatment plan.

There are several types of muscular dystrophies, including:

1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.

There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.

It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.

In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.

The symptoms of myasthenia gravis can vary in severity and may include:

* Weakness in the arms and legs
* Fatigue and muscle tiredness
* Difficulty swallowing (dysphagia)
* Difficulty speaking or slurred speech (dysarthria)
* Drooping eyelids (ptosis)
* Double vision (diplopia)
* Weakness in the muscles of the face, arms, and legs

The exact cause of myasthenia gravis is not known, but it is believed to be an autoimmune disorder, meaning that the body's immune system mistakenly attacks healthy tissues. It can also be caused by other medical conditions such as thyroid disease, vitamin deficiencies, or infections.

There is no cure for myasthenia gravis, but there are various treatments available to manage the symptoms and improve quality of life. These include:

* Medications such as corticosteroids, immunosuppressants, and cholinesterase inhibitors
* Plasmapheresis, a procedure that removes harmful antibodies from the blood
* Intravenous immunoglobulin (IVIG), which contains antibodies that can help block the immune system's attack on the nerve-muscle junction
* Surgery to remove the thymus gland, which is believed to play a role in the development of myasthenia gravis

It is important for individuals with myasthenia gravis to work closely with their healthcare provider to manage their symptoms and prevent complications. With proper treatment and self-care, many people with myasthenia gravis are able to lead active and fulfilling lives.

There are several different types of congenital myasthenic syndromes, each with its own unique set of symptoms and characteristics. Some of the most common include:

* Congenital myasthenic syndrome type 1 (CMS1): This is the most common type of CMS and is caused by a mutation in the CHRNA1 gene. It is characterized by muscle weakness, poor feeding, and delays in development.
* Congenital myasthenic syndrome type 2 (CMS2): This type is caused by a mutation in the CHRNB1 gene and is characterized by muscle weakness, cognitive impairment, and seizures.
* Congenital myasthenic syndrome type 3 (CMS3): This type is caused by a mutation in the MAP2 gene and is characterized by muscle weakness, developmental delays, and intellectual disability.

There is currently no cure for congenital myasthenic syndromes, but various treatments can help manage the symptoms. These may include physical therapy, occupational therapy, speech therapy, and medications such as acetylcholinesterase inhibitors and steroids. In some cases, a bone marrow transplant may be necessary.

The prognosis for individuals with congenital myasthenic syndromes varies depending on the specific type and severity of the disorder. Some individuals may have mild symptoms and lead relatively normal lives, while others may have more severe symptoms and require ongoing medical care and support. With appropriate treatment and management, many individuals with CMS can lead fulfilling lives.

The symptoms of myositis, inclusion body can vary in severity and may include:

* Muscle weakness and wasting, particularly in the legs and pelvis
* Muscle pain and stiffness
* Fatigue
* Limited range of motion in affected joints
* Difficulty swallowing or breathing (in severe cases)

The condition typically affects adults over the age of 50, and men are more frequently affected than women. The exact cause of myositis, inclusion body is not known, but it is believed to be an autoimmune disorder, meaning that the immune system mistakenly attacks healthy muscle tissue.

There is no cure for myositis, inclusion body, but treatment options are available to manage the symptoms and slow the progression of the condition. These may include:

* Medications such as corticosteroids, immunosuppressive drugs, and anti-inflammatory agents
* Physical therapy to maintain muscle strength and flexibility
* Assistive devices such as canes or walkers to improve mobility
* In severe cases, surgery may be necessary to repair damaged muscles or tendons.

It is important for individuals with myositis, inclusion body to work closely with their healthcare provider to develop a personalized treatment plan and monitor their condition regularly to adjust the treatment as needed. With appropriate management, many people with this condition are able to lead active and fulfilling lives.

Hypotonia is a state of decreased muscle tone, which can be caused by various conditions, such as injury, disease, or disorders that affect the nervous system. It is characterized by a decrease in muscle stiffness and an increase in joint range of motion. Muscle hypotonia can result in difficulty with movement, coordination, and balance.

There are several types of muscle hypotonia, including:

1. Central hypotonia: This type is caused by dysfunction in the central nervous system and results in a decrease in muscle tone throughout the body.
2. Peripheral hypotonia: This type is caused by dysfunction in the peripheral nervous system and results in a selective decrease in muscle tone in specific muscle groups.
3. Mixed hypotonia: This type combines central and peripheral hypotonia.

Muscle hypotonia can be associated with a variety of symptoms, such as fatigue, weakness, poor coordination, and difficulty with speech and swallowing. Treatment options vary depending on the underlying cause of the condition and may include physical therapy, medication, and lifestyle modifications.

Muscle hypotonia is a common condition that can affect people of all ages, from children to adults. Early diagnosis and treatment are important to help manage symptoms and improve quality of life. If you suspect you or your child may have muscle hypotonia, consult with a healthcare professional for proper evaluation and treatment.

Respiratory paralysis can manifest in different ways depending on the underlying cause and severity of the condition. Some common symptoms include:

1. Difficulty breathing: Patients may experience shortness of breath, wheezing, or a feeling of suffocation.
2. Weakened cough reflex: The muscles used for coughing may be weakened or paralyzed, making it difficult to clear secretions from the lungs.
3. Fatigue: Breathing can be tiring and may leave the patient feeling exhausted.
4. Sleep disturbances: Respiratory paralysis can disrupt sleep patterns and cause insomnia or other sleep disorders.
5. Chest pain: Pain in the chest or ribcage can be a symptom of respiratory paralysis, particularly if it is caused by muscle weakness or atrophy.

Diagnosis of respiratory paralysis typically involves a physical examination, medical history, and diagnostic tests such as electroencephalogram (EEG), electromyography (EMG), or nerve conduction studies (NCS). Treatment options vary depending on the underlying cause but may include:

1. Medications: Drugs such as bronchodilators, corticosteroids, and anticholinergics can be used to manage symptoms and improve lung function.
2. Respiratory therapy: Techniques such as chest physical therapy, respiratory exercises, and non-invasive ventilation can help improve lung function and reduce fatigue.
3. Surgery: In some cases, surgery may be necessary to correct anatomical abnormalities or repair damaged nerves.
4. Assistive devices: Patients with severe respiratory paralysis may require the use of assistive devices such as oxygen therapy, ventilators, or wheelchairs to help improve their quality of life.
5. Rehabilitation: Physical therapy, occupational therapy, and speech therapy can all be helpful in improving function and reducing disability.
6. Lifestyle modifications: Patients with respiratory paralysis may need to make lifestyle changes such as avoiding smoke, dust, and other irritants, getting regular exercise, and managing stress to help improve their condition.

The symptoms of DMD typically become apparent in early childhood and progress rapidly. They include:

* Delayed motor development
* Weakness and wasting of muscles, particularly in the legs and pelvis
* Muscle weakness that worsens over time
* Loss of muscle mass and fatigue
* Difficulty walking, running, or standing
* Heart problems, such as cardiomyopathy and arrhythmias
* Respiratory difficulties, such as breathing problems and pneumonia

DMD is diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. Treatment options are limited and focus on managing symptoms and improving quality of life. These may include:

* Physical therapy to maintain muscle strength and function
* Medications to manage pain, spasms, and other symptoms
* Assistive devices, such as braces and wheelchairs, to improve mobility and independence
* Respiratory support, such as ventilation assistance, to manage breathing difficulties

The progression of DMD is highly variable, with some individuals experiencing a more rapid decline in muscle function than others. The average life expectancy for individuals with DMD is approximately 25-30 years, although some may live into their 40s or 50s with appropriate medical care and support.

Duchenne muscular dystrophy is a devastating and debilitating condition that affects thousands of individuals worldwide. While there is currently no cure for the disorder, ongoing research and advancements in gene therapy and other treatments offer hope for improving the lives of those affected by DMD.

There are several subtypes of LGMD, each caused by mutations in different genes that code for proteins involved in muscle function and structure. The most common forms of LGMD include:

1. Muscular dystrophy-dystroglycanopathy type A (MDDGA): This is a severe form of LGMD caused by mutations in the DAG1 gene, which codes for the protein dystroglycan. Symptoms typically appear in infancy and progress rapidly, leading to early death.
2. Limb-girdle muscular dystrophy type 1A (LGMD1A): This is a mild form of LGMD caused by mutations in the LAMA2 gene, which codes for the protein laminin alpha 2 chain. Symptoms typically appear in childhood and progress slowly over time.
3. Limb-girdle muscular dystrophy type 2B (LGMD2B): This is a severe form of LGMD caused by mutations in the CAV3 gene, which codes for the protein caveolin-3. Symptoms typically appear in childhood and progress rapidly, leading to early death.

There is currently no cure for LGMD, but various treatments are available to manage symptoms and slow disease progression. These may include physical therapy, orthotics and assistive devices, pain management medications, and respiratory support as needed. Research into the genetic causes of LGMD is ongoing, with the goal of developing new and more effective treatments for this debilitating group of disorders.

Rhabdomyolysis can be caused by a variety of factors, including:

1. Physical trauma or injury to the muscles
2. Overuse or strain of muscles
3. Poor physical conditioning or training
4. Infections such as viral or bacterial infections that affect the muscles
5. Certain medications or drugs, such as statins and antibiotics
6. Alcohol or drug poisoning
7. Heat stroke or other forms of extreme heat exposure
8. Hypothyroidism (underactive thyroid)
9. Genetic disorders that affect muscle function.

Symptoms of rhabdomyolysis can include:

1. Muscle weakness or paralysis
2. Muscle pain or cramping
3. Confusion or disorientation
4. Dark urine or decreased urine output
5. Fever, nausea, and vomiting
6. Shortness of breath or difficulty breathing
7. Abnormal heart rhythms or cardiac arrest.

If you suspect that someone has rhabdomyolysis, it is important to seek medical attention immediately. Treatment typically involves supportive care, such as fluids and electrolyte replacement, as well as addressing any underlying causes of the condition. In severe cases, hospitalization may be necessary to monitor and treat complications such as kidney failure or cardiac problems.

There are several types of ophthalmoplegia, including:

1. External ophthalmoplegia: This type affects the muscles that control lateral and vertical movements of the eyes.
2. Internal ophthalmoplegia: This type affects the muscles that control rotational movements of the eyes.
3. Superior oblique paresis: This type affects the superior oblique muscle, which controls downward and outward movements of the eye.
4. Inferior oblique paresis: This type affects the inferior oblique muscle, which controls upward and outward movements of the eye.

Symptoms of ophthalmoplegia may include difficulty moving the eyes, double vision, droopy eyelids, and blurred vision. Treatment options depend on the underlying cause of the condition and may include physical therapy, prism lenses, or surgery.

Distal myopathies can be caused by a variety of factors, including genetic mutations, autoimmune disorders, and nutritional deficiencies. Some common forms of distal myopathy include:

1. Limb-girdle muscular dystrophy: This is a group of inherited disorders that affect the muscles around the shoulders and hips.
2. Facioscapulohumeral muscular dystrophy (FSHD): This is a genetic disorder that affects the muscles of the face, shoulder blades, and upper arms.
3. Myotonic dystrophy: This is the most common form of adult-onset muscular dystrophy, which causes muscle stiffness and spasms.
4. Inflammatory myopathies: These are autoimmune disorders that cause muscle inflammation and damage.
5. Nutritional deficiencies: Deficiencies in certain nutrients, such as vitamin D and calcium, can cause distal myopathy.

Symptoms of distal myopathies can vary depending on the specific disorder and the severity of the condition. Common symptoms include:

1. Muscle weakness and wasting in the arms and legs
2. Muscle cramps and spasms
3. Difficulty walking or standing
4. Weak grip strength
5. Difficulty swallowing or speaking (in some cases)

Diagnosis of distal myopathies typically involves a combination of physical examination, medical history, and laboratory tests such as muscle biopsy and genetic analysis. Treatment options vary depending on the specific disorder and can include physical therapy, medications, and in some cases, surgery.

In summary, distal myopathies are a group of muscle disorders that affect the distal muscles of the arms and legs, causing weakness and wasting. The specific causes and symptoms can vary depending on the disorder, but early diagnosis and treatment can help manage symptoms and improve quality of life.

The symptoms of LEMS typically develop gradually over time and may include:

1. Muscle weakness that worsens with activity and improves with rest.
2. Weakness in the legs, hips, and shoulders.
3. Fatigue and muscle cramps.
4. Difficulty walking or standing upright.
5. Double vision or other eye problems.
6. Dry mouth and difficulty swallowing.
7. Increased heart rate and blood pressure.
8. Impaired reflexes.
9. Decreased sweating.
10. Weight loss.

The exact cause of LEMS is not known, but it is believed to be an autoimmune disorder in which the immune system mistakenly attacks the VGCCs in the neuromuscular junction. The condition is often associated with other autoimmune disorders such as thyroiditis, vitiligo, and adrenal insufficiency.

There is no cure for LEMS, but treatment options are available to manage the symptoms. These may include:

1. Immunosuppressive medications such as prednisone to reduce inflammation and suppress the immune system.
2. Intracranial pressure-lowering medications such as acetazolamide to reduce the pressure in the brain.
3. Muscle strengthening exercises to improve muscle function.
4. Physical therapy to maintain muscle strength and flexibility.
5. Orthostatic hypotension medications to manage orthostatic hypotension (a drop in blood pressure when standing).
6. Pain management medications to relieve muscle cramps, spasms, or pain.
7. Nutritional support to ensure adequate nutrition and prevent weight loss.
8. Respiratory support as needed to manage respiratory muscle weakness.
9. Speech therapy to improve communication skills.
10. Psychological support to cope with the emotional and social challenges of the condition.

It is important for individuals with LEMS to work closely with their healthcare team to manage their symptoms and prevent complications. With proper treatment, many people with LEMS can lead active and fulfilling lives.

The normal range for potassium levels in the blood varies depending on age, gender, and other factors, but generally it is between 3.5 and 5.5 mEq/L (milliequivalents per liter).

Hypokalemia can be caused by a variety of factors such as diarrhea, vomiting, certain medications (diuretics, laxatives), kidney disease or malfunctioning of the parathyroid glands.

1. Duchenne muscular dystrophy: This is the most common form of muscular dystrophy in children, caused by a defect in the DMD gene that codes for dystrophin protein. It affects boys primarily and can lead to progressive muscle weakness and wasting, as well as cardiac and other complications.
2. Becker muscular dystrophy: This is a milder form of muscular dystrophy than Duchenne, caused by a defect in the DMD gene that codes for dystrophin protein. It primarily affects boys but can also affect girls.
3. Limb-girdle muscular dystrophy: This is a group of disorders characterized by progressive muscle weakness and degeneration, particularly affecting the shoulder and pelvic girdles. There are several types of limb-girdle muscular dystrophy, including type 1A, 1B, 2A, and 2B.
4. Facioscapulohumeral muscular dystrophy: This is a type of muscular dystrophy that affects the muscles of the face, shoulder blades, and upper arms. It can cause progressive muscle weakness, wasting, and fatigue.
5. Myotonic muscular dystrophy: This is the most common form of adult-onset muscular dystrophy, caused by a defect in the DMPK gene that codes for myotonia protein. It can cause progressive muscle stiffness, spasms, and weakness, as well as other complications such as cataracts and type 2 diabetes.

In animals, muscular dystrophy is similar to human forms of the disorder, caused by genetic mutations that affect muscle function and strength. It can be caused by a variety of factors, including genetics, nutrition, and environmental exposures.

Symptoms of muscular dystrophy in animals can include:

1. Progressive muscle weakness and wasting
2. Loss of coordination and balance
3. Difficulty walking or running
4. Muscle cramps and spasms
5. Poor appetite and weight loss
6. Increased breathing rate and difficulty breathing
7. Cardiac problems, such as arrhythmias and heart failure
8. Cognitive decline and seizures

Diagnosis of muscular dystrophy in animals is similar to human patients, involving a combination of physical examination, medical history, and diagnostic tests such as blood tests, imaging studies, and muscle biopsy.

Treatment for muscular dystrophy in animals is limited, but may include:

1. Supportive care, such as antibiotics for respiratory infections and pain management
2. Physical therapy to maintain joint mobility and prevent deformities
3. Nutritional support to ensure adequate nutrition and hydration
4. Medications to manage symptoms such as muscle spasms and seizures
5. Assistive devices, such as wheelchairs or slings, to improve mobility and quality of life

Prevention of muscular dystrophy in animals is not possible at present, but research into the genetic causes and potential treatments for the disease is ongoing. It is important for pet owners to be aware of the signs of muscular dystrophy and seek veterinary care if they suspect their pet may be affected.

There are two main types of myotonic dystrophy:

1. Type 1 (also known as DM1): This is the most common form of the disorder and affects about 90% of all cases. It is caused by a mutation in the DMPK gene on chromosome 19.
2. Type 2 (also known as DM2): This form of the disorder is less common and affects about 10% of all cases. It is caused by a mutation in the CNBP gene on chromosome 3.

Symptoms of myotonic dystrophy typically appear in adults between the ages of 20 and 40, but can sometimes be present at birth. They may include:

* Muscle stiffness and rigidity
* Weakness of the face, neck, and limbs
* Difficulty swallowing (dysphagia)
* Difficulty speaking or slurred speech (dysarthria)
* Eye problems, such as cataracts or muscle imbalance in the eyelids
* Cramps and muscle spasms
* Fatigue and weakness
* Slowed muscle relaxation after contraction (myotonia)

Myotonic dystrophy is diagnosed through a combination of physical examination, medical history, and genetic testing. There is currently no cure for the disorder, but various treatments can help manage symptoms and slow its progression. These may include:

* Physical therapy to improve muscle strength and function
* Medications to relax muscles and reduce spasms
* Speech therapy to improve communication and swallowing difficulties
* Occupational therapy to assist with daily activities and independence
* Orthotics and assistive devices to help with mobility and other challenges

It is important for individuals with myotonic dystrophy to work closely with their healthcare providers to manage their symptoms and maintain a good quality of life. With appropriate treatment and support, many people with the disorder are able to lead active and fulfilling lives.

CMT is caused by mutations in genes that are responsible for producing proteins that support the structure and function of the peripheral nerves. These mutations lead to a progressive loss of nerve fibers, particularly in the legs and feet, but also in the hands and arms. As a result, people with CMT often experience muscle weakness, numbness or tingling sensations, and foot deformities such as hammertoes and high arches. They may also have difficulty walking, balance problems, and decreased reflexes.

There are several types of Charcot-Marie-Tooth disease, each with different symptoms and progression. Type 1 is the most common form and typically affects children, while type 2 is more severe and often affects adults. Other types include type 3, which causes muscle weakness and atrophy, and type 4, which affects the hands and feet but not the legs.

There is no cure for Charcot-Marie-Tooth disease, but there are several treatments available to manage its symptoms. These may include physical therapy, braces or orthotics, pain medication, and surgery. In some cases, a stem cell transplant may be recommended to replace damaged nerve cells with healthy ones.

Early diagnosis of Charcot-Marie-Tooth disease is important to ensure proper management and prevention of complications. Treatment can help improve quality of life and slow the progression of the disease. With appropriate support and accommodations, people with CMT can lead active and fulfilling lives.

There are two forms of Pompe disease, infantile-onset and late-onset. Infantile-onset Pompe disease is the most severe form and is usually diagnosed in the first few months of life. Children with this form of the disorder may experience difficulty breathing, weakness, and floppiness. Late-onset Pompe disease, on the other hand, typically affects adults and may cause muscle weakness, fatigue, and shortness of breath.

Pompe disease is caused by mutations in the GAA gene, which is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Pompe disease is rare, affecting approximately 1 in 40,000 people worldwide.

Treatment for Pompe disease typically involves enzyme replacement therapy (ERT), which involves replacing the missing GAA enzyme with a synthetic version given through a vein. This can help reduce glycogen accumulation and improve symptoms. In some cases, a bone marrow transplant may also be performed to help restore normal GAA enzyme activity.

In summary, glycogen storage disease type II (Pompe disease) is a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen accumulation in cells and a range of symptoms including muscle weakness, respiratory problems, and cardiac issues. Treatment typically involves enzyme replacement therapy and may also include bone marrow transplantation.

There are two main types of myotonia:

1. Thomsen's disease: This is an inherited form of myotonia that affects the muscles of the face, neck, and limbs. It is caused by mutations in the CLCN1 gene and can be severe, causing difficulty with speaking, swallowing, and breathing.
2. Becker's muscular dystrophy: This is a form of muscular dystrophy that affects both the skeletal and cardiac muscles. It is caused by mutations in the DMPK gene and can cause myotonia, muscle weakness, and heart problems.

The symptoms of myotonia can vary depending on the severity of the condition and may include:

* Muscle stiffness and rigidity
* Spasms or twitches
* Difficulty with movement and mobility
* Fatigue and weakness
* Cramps
* Muscle wasting

Myotonia can be diagnosed through a combination of physical examination, medical history, and diagnostic tests such as electromyography (EMG) and muscle biopsy. There is no cure for myotonia, but treatment options may include:

* Physical therapy to improve movement and mobility
* Medications to relax muscles and reduce spasms
* Lifestyle modifications such as avoiding triggers and taking regular breaks to rest
* Surgery in severe cases to release or lengthen affected muscles.

It is important to note that myotonia can be a symptom of other underlying conditions, so proper diagnosis and management by a healthcare professional is essential to determine the best course of treatment.

* Type 1: Hypokalemic Periodic Paralysis (Hyperkalemia-induced muscle weakness)
* Type 2: Hyperkalemic Periodic Paralysis (K+ channels dysfunction, leading to muscle weakness)
* Type 3: Peripheral nerve damage causing FPPA
* Type 4: Central nervous system damage causing FPPA

Slide 3: Causes of Familial Periodic Paralysis (FPPA)

* Genetic mutations in SCN4A, KCNA1, and other genes involved in ion channel function
* Abnormalities in the expression and function of ion channels
* Autosomal dominant or recessive inheritance pattern

Slide 4: Symptoms of Familial Periodic Paralysis (FPPA)

* Muscle weakness or paralysis, often triggered by changes in diet, physical activity, or other environmental factors
* Weakness of the lower extremities more pronounced than the upper extremities
* Muscle cramps and twitching
* Abdominal pain
* Nausea and vomiting

Slide 5: Diagnosis of Familial Periodal Paralysis (FPPA)

* Clinical evaluation, including patient history and physical examination
* Electromyography (EMG) to assess muscle activity and diagnose FPPA
* Genetic testing to identify genetic mutations associated with FPPA
* Blood tests to measure potassium levels and rule out other conditions

Slide 6: Treatment of Familial Periodic Paralysis (FPPA)

* Potassium supplements to maintain normal potassium levels
* Avoiding triggers such as stress, cold temperature, and certain medications
* Physical therapy to improve muscle strength and function
* Pain management with analgesics and other medications as needed

Slide 7: Prognosis of Familial Periodic Paralysis (FPPA)

* FPPA is a chronic condition with no cure, but with proper management, patients can lead relatively normal lives
* The prognosis varies depending on the severity and frequency of attacks, as well as the presence of any complications
* Early diagnosis and treatment can improve the quality of life for patients with FPPA

Slide 8: Current Research in Familial Periodic Paralysis (FPPA)

* Genetic research to better understand the underlying causes of FPPA and develop new treatments
* Studies on the effectiveness of new medications and therapies for FPPA
* Investigation into the potential use of stem cells for treating FPPA

Slide 9: Current Challenges in Familial Periodic Paralysis (FPPA)

* Limited awareness and understanding of FPPA among healthcare professionals and the general public
* Lack of effective treatments for severe cases of FPPA
* Limited availability of specialized care and support for patients with FPPA

Slide 10: Conclusion

* Familial periodic paralysis (FPPA) is a rare and complex condition that affects both children and adults
* Early diagnosis and proper management are critical to improving the quality of life for patients with FPPA
* Ongoing research offers hope for new treatments and therapies, but more work needs to be done to increase awareness and understanding of this condition.

Postpoliomyelitis syndrome is thought to be caused by a combination of factors, including viral persistence, immune system dysfunction, and inflammation. The condition can be challenging to diagnose because its symptoms can resemble those of other conditions, such as fibromyalgia or chronic fatigue syndrome.

There is no cure for PPS, but various treatments can help manage the symptoms. These may include medications for pain and fatigue, physical therapy to maintain muscle strength and flexibility, and lifestyle modifications to conserve energy. Support groups and counseling can also provide valuable resources for individuals with PPS and their families.

While the condition can be disabling and affect an individual's quality of life, many people with PPS are able to lead active and fulfilling lives with appropriate management and support. It is important for individuals who had polio as children to follow up with their healthcare providers regularly to monitor their health and detect any changes or new symptoms early on.

There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.

SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.

There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.

Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.

MND is often fatal, usually within 2-5 years of diagnosis. There is currently no cure for MND, although various treatments and therapies can help manage the symptoms and slow its progression.

The most common types of MND are amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). ALS is characterized by rapid degeneration of motor neurons in the brain and spinal cord, leading to muscle weakness and paralysis. PLS is a slower-progressing form of MND that affects only the lower motor neurons.

MND can be caused by a variety of factors, including genetics, age, and exposure to toxins. It is often diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).

There is ongoing research into the causes and potential treatments for MND, including stem cell therapy, gene therapy, and drugs that target specific molecules involved in the disease process.

1. Complete paralysis: When there is no movement or sensation in a particular area of the body.
2. Incomplete paralysis: When there is some movement or sensation in a particular area of the body.
3. Localized paralysis: When paralysis affects only a specific part of the body, such as a limb or a facial muscle.
4. Generalized paralysis: When paralysis affects multiple parts of the body.
5. Flaccid paralysis: When there is a loss of muscle tone and the affected limbs feel floppy.
6. Spastic paralysis: When there is an increase in muscle tone and the affected limbs feel stiff and rigid.
7. Paralysis due to nerve damage: This can be caused by injuries, diseases such as multiple sclerosis, or birth defects such as spina bifida.
8. Paralysis due to muscle damage: This can be caused by injuries, such as muscular dystrophy, or diseases such as muscular sarcopenia.
9. Paralysis due to brain damage: This can be caused by head injuries, stroke, or other conditions that affect the brain such as cerebral palsy.
10. Paralysis due to spinal cord injury: This can be caused by trauma, such as a car accident, or diseases such as polio.

Paralysis can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, work, and participate in social and recreational activities. Treatment options for paralysis depend on the underlying cause and may include physical therapy, medications, surgery, or assistive technologies such as wheelchairs or prosthetic devices.

The main symptoms of HyperKPP are recurrent episodes of muscle weakness or paralysis, usually triggered by changes in potassium levels or other factors such as stress, exercise, or certain medications. These episodes can last from a few minutes to several hours and can affect any part of the body, including the legs, arms, face, and respiratory muscles.

During an episode, patients may experience muscle weakness, paralysis, and twitching, as well as abnormal heart rhythms and palpitations. They may also have difficulty speaking, swallowing, or breathing. In severe cases, HyperKPP can lead to respiratory failure and other complications.

There is no cure for HyperKPP, but medications such as acetazolamide and sodium citrate can help manage symptoms and prevent episodes. Patients with HyperKPP must avoid triggers such as stress, exercise, and certain medications, and maintain a balanced diet and regular potassium intake to control symptoms. In severe cases, a pacemaker or an implantable cardioverter-defibrillator (ICD) may be necessary to regulate the heart rhythm.

HyperKPP is a rare disorder that affects approximately 1 in 100,000 people worldwide. It can be difficult to diagnose, as the symptoms can be similar to other conditions such as hypokalemic periodic paralysis or other muscle disorders. However, genetic testing and a thorough medical history can help confirm the diagnosis.

Overall, HyperKPP is a rare and complex disorder that requires careful management and monitoring to prevent complications and improve quality of life. With proper treatment and lifestyle modifications, many patients with HyperKPP are able to lead active and fulfilling lives.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

There are several types of myotonic disorders, including:

1. Myotonia congenita: This is the most common form of myotonia and affects about 1 in 250,000 people worldwide. It is caused by mutations in the DMPK gene and typically affects the muscles of the face, neck, and limbs.
2. Myotonic dystrophy: This is a more severe form of myotonia that affects about 1 in 8,000 people worldwide. It is caused by mutations in the CNBP or PTPN1 genes and can lead to progressive muscle weakness and wasting.
3. Myotonic syndrome: This is a rare condition that affects about 1 in 100,000 people worldwide. It is caused by mutations in the SCN5A or CAV3 genes and can lead to muscle stiffness, spasms, and weakness, as well as other symptoms such as heart problems and vision loss.

Myotonic disorders can be diagnosed through a combination of clinical evaluation, electromyography (EMG), and genetic testing. Treatment for myotonic disorders is focused on managing symptoms and improving quality of life. This may include physical therapy, muscle relaxants, and other medications to help manage muscle stiffness and spasms. In some cases, surgery may be necessary to relieve compression on nerves or to correct deformities.

Overall, myotonic disorders are a group of rare genetic conditions that can have a significant impact on quality of life. While there is currently no cure for these disorders, advances in medical research and technology are helping to improve diagnosis and treatment options for those affected.

There are several types of respiratory insufficiency, including:

1. Hypoxemic respiratory failure: This occurs when the lungs do not take in enough oxygen, resulting in low levels of oxygen in the bloodstream.
2. Hypercapnic respiratory failure: This occurs when the lungs are unable to remove enough carbon dioxide from the bloodstream, leading to high levels of carbon dioxide in the bloodstream.
3. Mixed respiratory failure: This occurs when both hypoxemic and hypercapnic respiratory failure occur simultaneously.

Treatment for respiratory insufficiency depends on the underlying cause and may include medications, oxygen therapy, mechanical ventilation, and other supportive care measures. In severe cases, lung transplantation may be necessary. It is important to seek medical attention if symptoms of respiratory insufficiency are present, as early intervention can improve outcomes and prevent complications.

Bulbar palsy, progressive refers to a condition where there is a gradual loss of muscle function in the face, tongue, and throat due to damage to the brainstem. This condition is also known as progressive bulbar palsy (PBP).

The brainstem is responsible for controlling many of the body's automatic functions, including breathing, heart rate, and swallowing. When the brainstem is damaged, it can lead to a range of symptoms, including weakness or paralysis of the muscles in the face, tongue, and throat.

The symptoms of progressive bulbar palsy may include:

* Difficulty speaking or slurred speech
* Weakness or paralysis of the facial muscles
* Difficulty swallowing (dysphagia)
* Weight loss due to difficulty eating and drinking
* Fatigue and weakness
* Decreased reflexes

Progressive bulbar palsy can be caused by a variety of conditions, including:

* Brainstem stroke or bleeding
* Brain tumors
* Multiple sclerosis
* Amyotrophic lateral sclerosis (ALS)
* Other neurodegenerative disorders

There is no cure for progressive bulbar palsy, but treatment may include:

* Speech therapy to improve communication skills
* Swallowing therapy to reduce the risk of choking or pneumonia
* Physical therapy to maintain muscle strength and function
* Medications to manage symptoms such as pain, weakness, or fatigue

The prognosis for progressive bulbar palsy is generally poor, with many individuals experiencing significant decline in their quality of life and eventually succumbing to the disease. However, the rate of progression can vary greatly depending on the underlying cause of the condition.

The symptoms of OPMD usually develop gradually over time and may include:

1. Difficulty swallowing (dysphagia)
2. Weakness or paralysis of the eye muscles (ophthalmoplegia)
3. Droopy eyelids (ptosis)
4. Double vision (diplopia)
5. Trouble moving the eyes (oculomotor dysfunction)
6. Wasting of the muscles in the throat (pharyngeal weakness)
7. Weakness in the face, arms, or legs

OPMD is caused by mutations in the PABPN1 gene, which codes for a protein involved in the repair and maintenance of muscle tissue. There is currently no cure for OPMD, but various treatments can help manage its symptoms and slow its progression. These may include:

1. Glasses or contact lenses to correct vision problems
2. Eye exercises to improve eye movements
3. Physical therapy to maintain muscle strength and function
4. Speech therapy to improve swallowing and communication
5. Medications to manage double vision, droopy eyelids, and other symptoms
6. Assistive devices such as wheelchairs or walkers to aid mobility

The progression of OPMD can vary greatly between individuals, with some experiencing mild symptoms while others may experience more severe and debilitating effects. With proper management and support, however, many people with OPMD can lead active and fulfilling lives despite their condition.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Brachial plexus neuritis is a condition that affects the brachial plexus, a network of nerves that runs from the spine down to the shoulder and arm. It occurs when the nerves in this region become inflamed or damaged, leading to pain and weakness in the arm and hand.

The condition can be caused by a variety of factors, including injury, infection, or compression of the nerves. It is more common in young adults and may be associated with certain medical conditions, such as diabetes, thyroid disease, or Lyme disease.

Symptoms of brachial plexus neuritis may include pain, numbness, tingling, and weakness in the arm and hand. The condition can also cause difficulty with gripping or grasping objects, and may affect fine motor skills such as writing or buttoning a shirt.

Treatment for brachial plexus neuritis typically involves physical therapy, pain management, and addressing any underlying medical conditions. In some cases, surgery may be necessary to relieve compression or damage to the nerves. With appropriate treatment, most people with brachial plexus neuritis are able to recover significant function in their arm and hand over time.

The disorder is caused by a defect in one copy of the D4Z4 repeat on chromosome 4, which leads to the degeneration of muscle fibers and a loss of motor neurons. The age of onset and progression of the disease vary widely, with some individuals experiencing symptoms in childhood while others may not develop them until adulthood.

There is no cure for FSHD, but various treatments can help manage the symptoms and slow its progression. These include physical therapy, bracing and orthotics, medications to reduce inflammation and pain, and in some cases, surgery. Research into the genetic causes of the disorder is ongoing, with the goal of developing new and more effective treatments.

Respiratory aspiration can lead to a range of complications, including pneumonia, bronchitis, and lung abscesses. It can also cause respiratory failure, which can be life-threatening.

Symptoms of respiratory aspiration may include coughing, wheezing, difficulty breathing, and fever. Diagnosis is typically made through a combination of physical examination, medical history, and diagnostic tests such as chest X-rays or endoscopy. Treatment may involve antibiotics for any infections that have developed, as well as supportive care to help the individual breathe more easily. In severe cases, respiratory aspiration may require hospitalization and mechanical ventilation.

Preventing respiratory aspiration is important, especially for individuals who are at high risk. This can involve modifications to their diet, such as thickening liquids or pureeing foods, as well as using specialized feeding tubes or devices that help to prevent the entry of foreign substances into the respiratory tract.

Muscle spasticity can cause a range of symptoms, including:

* Increased muscle tone, leading to stiffness and rigidity
* Spasms or sudden contractions of the affected muscles
* Difficulty moving the affected limbs
* Pain or discomfort in the affected area
* Abnormal postures or movements

There are several potential causes of muscle spasticity, including:

* Neurological disorders such as cerebral palsy, multiple sclerosis, and spinal cord injuries
* Stroke or other brain injuries
* Muscle damage or inflammation
* Infections such as meningitis or encephalitis
* Metabolic disorders such as hypokalemia (low potassium levels) or hyperthyroidism

Treatment options for muscle spasticity include:

* Physical therapy to improve range of motion and strength
* Medications such as baclofen, tizanidine, or dantrolene to reduce muscle spasms
* Injectable medications such as botulinum toxin or phenol to destroy excess nerve fibers
* Surgery to release or sever affected nerve fibers
* Electrical stimulation therapy to improve muscle function and reduce spasticity.

It is important to note that muscle spasticity can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, maintain independence, and engage in social and recreational activities. As such, it is important to seek medical attention if symptoms of muscle spasticity are present to determine the underlying cause and develop an appropriate treatment plan.

Types of NMJ Diseases:

1. Myasthenia Gravis (MG): An autoimmune disorder that causes muscle weakness and fatigue due to the immune system attacking the NMJs.
2. Lambert-Eaton Myasthenic Syndrome (LEMS): A rare autoimmune disorder that affects the NMJ and can cause muscle weakness, fatigue, and other symptoms.
3. Congenital Myasthenic Syndromes (CMS): A group of rare genetic disorders that affect the development and function of the NMJ, leading to muscle weakness and other symptoms.
4. Neuronal Ceroid Lipofuscinosis (NCL): A group of rare genetic disorders that affect the nervous system and can cause muscle weakness, seizures, and vision loss.
5. Inflammatory Myopathies: A group of muscle disorders caused by inflammation, such as polymyositis or dermatomyositis, which can affect the NMJ and cause muscle weakness.

Symptoms of NMJ Diseases:

1. Muscle weakness or paralysis
2. Fatigue and exhaustion
3. Difficulty swallowing or breathing (in severe cases)
4. Droopy eyelids or double vision
5. Slurred speech or difficulty speaking
6. Weakness in the arms and legs
7. Muscle wasting and loss of muscle mass
8. Seizures or fits
9. Vision loss or blurred vision
10. Cramps or spasms

Diagnosis of NMJ Diseases:

1. Medical history and physical examination
2. Electromyography (EMG) to test muscle activity and strength
3. Nerve conduction studies (NCS) to test nerve function
4. Imaging tests such as MRI or CT scans to rule out other conditions
5. Blood tests to check for autoantibodies or other signs of inflammation
6. Genetic testing to diagnose inherited forms of NMJ diseases

Treatment of NMJ Diseases:

1. Medications such as steroids, immunosuppressants, and anticonvulsants to reduce inflammation and muscle weakness
2. Physical therapy to improve muscle strength and function
3. Occupational therapy to improve daily living skills
4. Speech therapy to improve communication and swallowing difficulties
5. Surgery to relieve compression or repair damaged nerves or muscles
6. Plasmapheresis (plasma exchange) to remove harmful antibodies from the blood
7. Intravenous immunoglobulin (IVIG) therapy to reduce inflammation and modulate the immune system
8. Immunoadsorption therapy to remove antibodies from the blood and restore immune balance
9. Stem cell transplantation to replace damaged cells with healthy ones
10. Gene therapy to repair genetic defects causing NMJ diseases.

It's important to note that the treatment of NMJ diseases is highly individualized and may vary depending on the specific diagnosis, severity of symptoms, and overall health of the patient. A multidisciplinary approach involving neurologists, physical therapists, occupational therapists, speech therapists, and other specialists may be necessary to provide comprehensive care.

Examples of abnormal reflexes include:

1. Overactive reflexes: Reflexes that are too strong or exaggerated, such as an oversensitive knee jerk reflex.
2. Underactive reflexes: Reflexes that are too weak or diminished, such as a decreased tendon reflex in the arm.
3. Delayed reflexes: Reflexes that take longer than expected to occur, such as a delayed deep tendon reflex.
4. Abnormal reflex arc: A reflex arc that is not normal or expected for the situation, such as a spastic reflex arc.
5. Reflexes that are out of proportion to the stimulus: Such as an excessive or exaggerated reflex response to a mild stimulus.
6. Reflexes that occur in the absence of a stimulus: Such as a spontaneous reflex.
7. Reflexes that do not resolve: Such as a persistent reflex.
8. Reflexes that are painful or uncomfortable: Such as an abnormal rectal reflex.

It's important to note that not all abnormal reflexes are necessarily indicative of a serious medical condition, but they should be evaluated by a healthcare professional to determine the underlying cause and appropriate treatment.

There are several types of mitochondrial myopathies, each with different clinical features and inheritance patterns. Some of the most common forms include:

1. Kearns-Sayre syndrome: This is a rare progressive disorder that affects the nervous system, muscles, and other organs. It is characterized by weakness and paralysis, seizures, and vision loss.
2. MELAS syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes): This condition is characterized by recurring stroke-like episodes, seizures, muscle weakness, and cognitive decline.
3. MERRF (myoclonic epilepsy with ragged red fibers): This disorder is characterized by myoclonus (muscle jerks), seizures, and progressive muscle weakness.
4. LHON (Leber's hereditary optic neuropathy): This condition affects the optic nerve and can lead to sudden vision loss.

The symptoms of mitochondrial myopathies can vary widely, depending on the specific disorder and the severity of the mutation. They may include muscle weakness, muscle cramps, muscle wasting, seizures, vision loss, and cognitive decline.

There is no cure for mitochondrial myopathies, but various treatments can help manage the symptoms. These may include physical therapy, medications to control seizures or muscle spasms, and nutritional supplements to support energy production. In some cases, a lung or heart-lung transplant may be necessary.

The diagnosis of a mitochondrial myopathy is based on a combination of clinical findings, laboratory tests, and genetic analysis. Laboratory tests may include blood tests to measure the levels of certain enzymes and other molecules in the body, as well as muscle biopsy to examine the muscle tissue under a microscope. Genetic testing can help identify the specific mutation responsible for the condition.

The prognosis for mitochondrial myopathies varies depending on the specific disorder and the severity of the symptoms. Some forms of the disease are slowly progressive, while others may be more rapidly debilitating. In general, the earlier the diagnosis and treatment, the better the outcome.

There is currently no cure for mitochondrial myopathies, but research is ongoing to develop new treatments and therapies. In addition, there are several organizations and support groups that provide information and resources for individuals with these conditions and their families.

Examples of connective tissue neoplasms include:

1. Osteosarcoma: a malignant tumor that arises in the bone.
2. Chondrosarcoma: a malignant tumor that arises in cartilage.
3. Liposarcoma: a malignant tumor that arises in fat cells.
4. Hemangiosarcoma: a malignant tumor that arises in the blood vessels.
5. Melanoma: a malignant tumor that arises from the pigment-producing cells of the skin.
6. Giant cell tumor of bone: a benign tumor that arises in the bone and can be aggressive.
7. Multiple myeloma: a cancer of the plasma cells, which are a type of white blood cell found in the bone marrow.
8. Fibrous dysplasia: a benign condition where abnormal growth of connective tissue replaces normal bone and can cause deformity or fracture.

These types of neoplasms are rare, but they can be aggressive and may require surgery, chemotherapy, or radiation therapy for treatment.

There are many different causes of polyneuropathy, including:

1. Diabetes: High blood sugar levels over time can damage nerves, leading to numbness, tingling, and pain in the hands and feet.
2. Vitamin deficiencies: Deficiencies in vitamins such as B12 and B6 can cause nerve damage and polyneuropathy.
3. Toxins: Exposure to certain toxins, such as heavy metals or pesticides, can damage nerves and cause polyneuropathy.
4. Infections: Certain infections, such as Lyme disease and HIV, can cause polyneuropathy.
5. Autoimmune disorders: Conditions such as Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP) are autoimmune disorders that can cause polyneuropathy.
6. Trauma: Physical trauma, such as a severe injury or crush injury, can cause polyneuropathy.
7. Cancer: Certain types of cancer, such as lymphoma and leukemia, can cause polyneuropathy.
8. Genetic disorders: Some inherited conditions, such as Charcot-Marie-Tooth disease, can cause polyneuropathy.

The symptoms of polyneuropathy depend on the specific nerves affected and can include:

1. Numbness or tingling in the hands and feet
2. Pain in the hands and feet
3. Weakness in the muscles of the hands and feet
4. Difficulty walking or maintaining balance
5. Loss of reflexes
6. Sensitivity to touch or temperature changes
7. Muscle wasting
8. Decreased dexterity
9. Tremors
10. Autonomic dysfunction (e.g., bowel or bladder problems)

The diagnosis of polyneuropathy is based on a combination of clinical findings, nerve conduction studies, and laboratory tests. Treatment depends on the underlying cause of the condition and may include:

1. Pain management with medications such as pain relievers or anti-seizure drugs
2. Physical therapy to maintain muscle strength and mobility
3. Occupational therapy to improve daily functioning
4. Assistive devices, such as canes or walkers, to aid with mobility
5. Autonomic dysfunction management with medications such as beta blockers or fludrocortisone
6. Plasmapheresis, a procedure that removes harmful antibodies from the blood
7. Immunoglobulin therapy, which can help to reduce inflammation
8. Intravenous immunoglobulin (IVIG) therapy, which can help to reduce inflammation and repair nerve damage
9. Dietary changes, such as increasing protein intake, to support nerve health
10. Avoiding harmful substances, such as alcohol or tobacco, which can worsen the condition.

The symptoms of GBS can range from mild to severe and may include:

* Weakness or tingling sensations in the legs, arms, or face
* Muscle weakness that progresses to paralysis
* Loss of reflexes
* Difficulty swallowing or speaking
* Numbness or pain in the hands and feet
* Fatigue and fever

The diagnosis of GBS is based on a combination of symptoms, physical examination findings, and laboratory tests. There is no cure for GBS, but treatment can help manage symptoms and prevent complications. Plasmapheresis, immunoglobulin therapy, and corticosteroids are common treatments used to reduce inflammation and slow the progression of the disease.

GBS is a rare condition that affects about one in 100,000 people per year in the United States. It can affect anyone, but it is more common in children and young adults. The prognosis for GBS varies depending on the severity of the disease, but most people recover fully within a few weeks or months with proper treatment.

In conclusion, Guillain-Barré Syndrome is a rare autoimmune disorder that can cause muscle weakness and paralysis. While there is no cure for GBS, early diagnosis and treatment can help manage symptoms and prevent complications. With proper care, most people with GBS can recover fully within a few weeks or months.

Source: Genetic and Rare Diseases Information Center (GARD), the National Institutes of Health (NIH)

Asthenia is a non-specific term that can describe a wide range of symptoms, from mild to severe, and may involve multiple systems of the body. Treatment depends on the underlying cause, which can include medication, lifestyle changes, therapy, or a combination of these.

There are several subtypes of HSMN, each with distinct clinical features and inheritance patterns. Some of the most common forms of HSMN include:

1. Charcot-Marie-Tooth disease (CMT): This is the most common form of HSMN, accounting for about 70% of all cases. CMT is caused by mutations in genes that code for proteins involved in the structure and function of peripheral nerves.
2. Hereditary motor and sensory neuropathy (HMSN): This is a group of disorders that affect both the sensory and motor nerves, leading to a range of symptoms including weakness, wasting of muscles, and loss of sensation.
3. Spastic paraparesis (SP): This is a rare form of HSMN that is characterized by weakness and stiffness in the legs, as well as spasticity (increased muscle tone).
4. Hereditary neuropathy with liability to pressure palsies (HNPP): This is a rare form of HSMN that is caused by mutations in the PMP22 gene, which codes for a protein involved in the structure and function of peripheral nerves.

The symptoms of HSMN can vary widely depending on the specific subtype and the severity of the condition. Common symptoms include:

* Weakness and muscle wasting
* Numbness and tingling sensations
* Loss of sensation in the hands and feet
* Muscle cramps and spasms
* Difficulty walking or maintaining balance

There is no cure for HSMN, but treatment options are available to manage symptoms and slow the progression of the disease. These may include:

* Physical therapy to improve muscle strength and mobility
* Occupational therapy to improve daily functioning and independence
* Pain management medications
* Orthotics and assistive devices to aid mobility and balance
* Injections or infusions of immunoglobulins to reduce inflammation and demyelination

It is important for individuals with HSMN to receive regular monitoring and care from a healthcare team, including a neurologist, physical therapist, and other specialists as needed. With appropriate management, many individuals with HSMN are able to lead active and fulfilling lives.

ALS is caused by a breakdown of the nerve cells responsible for controlling voluntary muscle movement, leading to muscle atrophy and loss of motor function. The disease can affect anyone, regardless of age or gender, but it is most common in people between the ages of 55 and 75.

The symptoms of ALS can vary from person to person, but they typically include:

* Muscle weakness or twitching
* Muscle wasting or atrophy
* Loss of motor function, such as difficulty walking, speaking, or swallowing
* Slurred speech or difficulty with language processing
* Weakness or paralysis of the limbs
* Difficulty with balance and coordination
* Fatigue and weakness
* Cognitive changes, such as memory loss and decision-making difficulties

There is currently no cure for ALS, but there are several treatments available to help manage the symptoms and slow the progression of the disease. These include:

* Riluzole, a medication that reduces the amount of glutamate in the brain, which can slow down the progression of ALS
* Physical therapy, to maintain muscle strength and function as long as possible
* Occupational therapy, to help with daily activities and assistive devices
* Speech therapy, to improve communication and swallowing difficulties
* Respiratory therapy, to manage breathing problems
* Nutritional support, to ensure adequate nutrition and hydration

The progression of ALS can vary greatly from person to person, but on average, people with the disease live for 2-5 years after diagnosis. However, some people may live for up to 10 years or more with the disease. The disease is usually diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).

There is ongoing research into the causes of ALS and potential treatments for the disease. Some promising areas of research include:

* Gene therapy, to repair or replace the faulty genes that cause ALS
* Stem cell therapy, to promote the growth of healthy cells in the body
* Electrical stimulation, to improve muscle function and strength
* New medications, such as antioxidants and anti-inflammatory drugs, to slow down the progression of ALS

Overall, while there is currently no cure for ALS, there are several treatments available to help manage the symptoms and slow the progression of the disease. Ongoing research offers hope for new and more effective treatments in the future.

The symptoms of myotonia congenita can vary in severity and may include:

* Muscle stiffness and rigidity, especially in the legs, arms, and neck
* Difficulty relaxing muscles after contraction, leading to prolonged muscle tensing
* Muscle cramps and spasms
* Weakness and fatigue of the muscles
* Delayed or absent deep tendon reflexes
* Abnormal posture or gait
* Difficulty with speech and swallowing in severe cases

Myotonia congenita can be diagnosed through a combination of clinical evaluation, electromyography (EMG), and genetic testing. Treatment for the condition typically involves physical therapy, massage, and relaxation techniques to help manage muscle stiffness and improve mobility. In severe cases, medications such as sodium channel blockers or chloride channel activators may be prescribed to help regulate muscle contraction and relaxation.

Myotonia congenita is a rare condition, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. The condition can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases may be sporadic, meaning they are not inherited from either parent.

Overall, myotonia congenita is a rare and complex genetic disorder that affects the muscles and can significantly impact an individual's quality of life. With proper diagnosis and management, individuals with myotonia congenita can lead fulfilling lives despite the challenges posed by the condition.

There are several types of sensation disorders, including:

1. Peripheral neuropathy: This is a condition where the nerves in the hands and feet are damaged, leading to numbness, tingling, and pain.
2. Central sensory loss: This is a condition where there is damage to the brain or spinal cord, leading to loss of sensation in certain parts of the body.
3. Dysesthesia: This is a condition where an individual experiences abnormal sensations, such as burning, stabbing, or crawling sensations, in their body.
4. Hypoalgesia: This is a condition where an individual experiences decreased sensitivity to pain.
5. Hyperalgesia: This is a condition where an individual experiences increased sensitivity to pain.

Sensation disorders can be diagnosed through a combination of physical examination, medical history, and diagnostic tests such as nerve conduction studies or electromyography. Treatment options for sensation disorders depend on the underlying cause and may include medications, physical therapy, or surgery.

Some common causes of sensation disorders include:

1. Diabetes: High blood sugar levels can damage nerves, leading to numbness, tingling, and pain in the hands and feet.
2. Multiple sclerosis: An autoimmune disease that affects the central nervous system, leading to loss of sensation, vision, and muscle weakness.
3. Spinal cord injury: Trauma to the spine can damage the nerves, leading to loss of sensation and function below the level of injury.
4. Stroke: A stroke can damage the nerves, leading to loss of sensation and function on one side of the body.
5. Vitamin deficiencies: Deficiencies in vitamins such as B12 or vitamin D can cause numbness and tingling in the hands and feet.
6. Chronic inflammation: Conditions such as rheumatoid arthritis or lupus can cause chronic inflammation, leading to nerve damage and sensation disorders.
7. Tumors: Tumors can compress or damage nerves, leading to sensation disorders.
8. Infections: Certain infections such as Lyme disease or shingles can cause sensation disorders.
9. Trauma: Physical trauma, such as a fall or a car accident, can cause nerve damage and lead to sensation disorders.

Some common symptoms of sensation disorders include:

1. Numbness or tingling in the hands and feet
2. Pain or burning sensations
3. Difficulty perceiving temperature or touch
4. Weakness or paralysis of certain muscle groups
5. Loss of reflexes
6. Difficulty coordinating movements
7. Dizziness or loss of balance
8. Tremors or spasms
9. Muscle atrophy or wasting away of certain muscles

Treatment for sensation disorders depends on the underlying cause and can include:

1. Medications to control pain, inflammation, or infection
2. Physical therapy to improve strength and coordination
3. Occupational therapy to improve daily functioning
4. Lifestyle changes such as exercise, diet, and stress management
5. Surgery to repair nerve damage or relieve compression
6. Injections of medication or other substances to stimulate nerve regeneration
7. Electrical stimulation therapy to improve nerve function
8. Transcutaneous electrical nerve stimulation (TENS) to reduce pain and inflammation
9. Alternative therapies such as acupuncture or massage to promote healing and relaxation.

Quadriplegia can be classified into two types:

1. Complete quadriplegia: This is when all four limbs are paralyzed and there is no movement or sensation below the level of the injury.
2. Incomplete quadriplegia: This is when some movement or sensation remains below the level of the injury, but not in all four limbs.

The symptoms of quadriplegia can vary depending on the underlying cause and severity of the condition. They may include:

* Loss of movement in the arms and legs
* Weakness or paralysis of the muscles in the arms and legs
* Decreased or absent sensation in the arms and legs
* Difficulty with balance and coordination
* Difficulty with walking, standing, or sitting
* Difficulty with performing daily activities such as dressing, grooming, and feeding oneself

The diagnosis of quadriplegia is typically made through a combination of physical examination, medical history, and imaging studies such as X-rays or MRIs. Treatment for quadriplegia depends on the underlying cause and may include:

* Physical therapy to improve strength and mobility
* Occupational therapy to learn new ways of performing daily activities
* Assistive devices such as braces, walkers, or wheelchairs
* Medications to manage pain, spasticity, or other symptoms
* Surgery to repair or stabilize the spinal cord or other affected areas.

Overall, quadriplegia is a severe condition that can significantly impact a person's quality of life. However, with appropriate treatment and support, many people with quadriplegia are able to lead active and fulfilling lives.

Brachial plexus neuropathies refer to a group of disorders that affect the brachial plexus, a network of nerves that run from the neck and shoulder down to the hand and fingers. These disorders can cause a range of symptoms including weakness, numbness, and pain in the arm and hand.

The brachial plexus is a complex network of nerves that originates in the spinal cord and branches off into several nerves that supply the shoulder, arm, and hand. Brachial plexus neuropathies can occur due to a variety of causes such as injury, trauma, tumors, cysts, infections, autoimmune disorders, and genetic mutations.

There are several types of brachial plexus neuropathies, including:

1. Erb's palsy: A condition that affects the upper roots of the brachial plexus and can cause weakness or paralysis of the arm and hand.
2. Klumpke's palsy: A condition that affects the lower roots of the brachial plexus and can cause weakness or paralysis of the hand and wrist.
3. Brachial neuritis: An inflammatory condition that causes sudden weakness and pain in the arm and hand.
4. Thoracic outlet syndrome: A condition where the nerves and blood vessels between the neck and shoulder become compressed, leading to pain and weakness in the arm and hand.
5. Neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS) and peripheral neuropathy.

The symptoms of brachial plexus neuropathies can vary depending on the type and severity of the condition, but may include:

* Weakness or paralysis of the arm and hand
* Numbness or loss of sensation in the arm and hand
* Pain or aching in the arm and hand
* Muscle wasting or atrophy
* Limited range of motion in the shoulder, elbow, and wrist joints
* Decreased grip strength
* Difficulty with fine motor skills such as buttoning a shirt or tying shoelaces.

Brachial plexus neuropathies can be diagnosed through a combination of physical examination, imaging studies such as MRI or EMG, and nerve conduction studies. Treatment options vary depending on the specific condition and severity of the symptoms, but may include:

* Physical therapy to improve strength and range of motion
* Occupational therapy to improve fine motor skills and daily living activities
* Medications such as pain relievers or anti-inflammatory drugs
* Injections of corticosteroids to reduce inflammation
* Surgery to release compressed nerves or repair damaged nerve tissue.

There are different types of contractures, including:

1. Scar contracture: This type of contracture occurs when a scar tissue forms and tightens, causing a loss of movement in the affected area.
2. Neurogenic contracture: This type of contracture is caused by nerve damage and can occur after an injury or surgery.
3. Post-burn contracture: This type of contracture occurs after a burn injury and is caused by scarring and tightening of the skin and underlying tissues.
4. Congenital contracture: This type of contracture is present at birth and can be caused by genetic or environmental factors.

Signs and symptoms of contractures may include:

1. Limited range of motion
2. Pain or stiffness in the affected area
3. Skin tightening or shrinkage
4. Deformity of the affected area

Treatment options for contractures depend on the severity and cause of the condition, and may include:

1. Physical therapy to improve range of motion and strength
2. Bracing to support the affected area and prevent further tightening
3. Surgery to release or lengthen the scar tissue or tendons
4. Injections of botulinum toxin or other medications to relax the muscle and improve range of motion.

Peripheral Nervous System Diseases can result from a variety of causes, including:

1. Trauma or injury
2. Infections such as Lyme disease or HIV
3. Autoimmune disorders such as Guillain-Barré syndrome
4. Genetic mutations
5. Tumors or cysts
6. Toxins or poisoning
7. Vitamin deficiencies
8. Chronic diseases such as diabetes or alcoholism

Some common Peripheral Nervous System Diseases include:

1. Neuropathy - damage to the nerves that can cause pain, numbness, and weakness in the affected areas.
2. Multiple Sclerosis (MS) - an autoimmune disease that affects the CNS and PNS, causing a range of symptoms including numbness, weakness, and vision problems.
3. Peripheral Neuropathy - damage to the nerves that can cause pain, numbness, and weakness in the affected areas.
4. Guillain-Barré syndrome - an autoimmune disorder that causes muscle weakness and paralysis.
5. Charcot-Marie-Tooth disease - a group of inherited disorders that affect the nerves in the feet and legs, leading to muscle weakness and wasting.
6. Friedreich's ataxia - an inherited disorder that affects the nerves in the spine and limbs, leading to coordination problems and muscle weakness.
7. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - an autoimmune disorder that causes inflammation of the nerves, leading to pain, numbness, and weakness in the affected areas.
8. Amyotrophic Lateral Sclerosis (ALS) - a progressive neurological disease that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness, atrophy, and paralysis.
9. Spinal Muscular Atrophy - an inherited disorder that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness and wasting.
10. Muscular Dystrophy - a group of inherited disorders that affect the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness and wasting.

It's important to note that this is not an exhaustive list and there may be other causes of muscle weakness. If you are experiencing persistent or severe muscle weakness, it is important to see a healthcare professional for proper evaluation and diagnosis.

The term "paraneoplastic" refers to the fact that these conditions are parallel to, or associated with, neoplasms (abnormal growths) in the body. The exact cause of paraneoplastic syndromes is not fully understood, but they are believed to be related to the immune system's response to cancer cells.

Some common features of paraneoplastic syndromes include:

1. Autoantibodies: The immune system produces antibodies that attack the body's own tissues and organs.
2. Inflammation: The immune system causes inflammation in various parts of the body.
3. Nerve damage: Paraneoplastic syndromes can affect the nerves, leading to symptoms such as numbness, weakness, and pain.
4. Muscle weakness: Some paraneoplastic syndromes can cause muscle weakness and wasting.
5. Skin rashes: Some patients with paraneoplastic syndromes may develop skin rashes or lesions.
6. Eye problems: Paraneoplastic syndromes can affect the eyes, leading to symptoms such as double vision, blindness, and eye pain.
7. Endocrine dysfunction: Some paraneoplastic syndromes can disrupt the normal functioning of the endocrine system, leading to hormonal imbalances.

Examples of paraneoplastic syndromes include:

1. Lambert-Eaton myasthenic syndrome (LEMS): This is a rare autoimmune disorder that affects the nerves and muscles, leading to muscle weakness and fatigue. It is often associated with small cell lung cancer.
2. Anti-NMDA receptor encephalitis: This is a severe autoimmune disorder that affects the brain and can cause symptoms such as seizures, confusion, and memory loss. It is often associated with ovarian teratoma.
3. Paraneoplastic cerebellar degeneration (PCD): This is a rare condition that affects the cerebellum and can cause symptoms such as coordination problems, balance difficulties, and difficulty with movement. It is often associated with lung cancer or other types of cancer.
4. Stiff-person syndrome: This is a rare autoimmune disorder that affects the central nervous system and can cause symptoms such as muscle stiffness, spasms, and autonomy dysfunction. It is often associated with ovarian teratoma.
5. Polymyositis: This is a rare inflammatory condition that affects the muscles and can cause muscle weakness and wasting. It is often associated with cancer, particularly lung cancer.
6. Dercum's disease: This is a rare condition that affects the adipose tissue and can cause symptoms such as pain, swelling, and limited mobility. It is often associated with cancer, particularly breast cancer.
7. Multiple myeloma: This is a type of cancer that affects the plasma cells in the bone marrow and can cause symptoms such as bone pain, fatigue, and weakness. It is often associated with ovarian teratoma.
8. Painless thyroiditis: This is a rare condition that affects the thyroid gland and can cause symptoms such as thyroid gland inflammation, fatigue, and weight gain. It is often associated with cancer, particularly breast cancer.
9. Ovarian cysts: These are fluid-filled sacs that form on the ovaries and can cause symptoms such as pelvic pain, bloating, and irregular menstrual periods. They are often associated with ovarian teratoma.
10. Endometriosis: This is a condition in which tissue similar to the lining of the uterus grows outside of the uterus and can cause symptoms such as pelvic pain, heavy menstrual bleeding, and infertility. It is often associated with ovarian teratoma.

It's important to note that these conditions are rare and not all cases of ovarian teratoma are associated with them. If you suspect you may have ovarian teratoma, it's important to talk to your healthcare provider for proper diagnosis and treatment.

In the medical field, dyspnea is often evaluated using a numerical rating scale called the Medical Research Council (MRC) dyspnea scale. This scale rates dyspnea on a scale of 0 to 5, with 0 indicating no shortness of breath and 5 indicating extreme shortness of breath.

Dyspnea can be a symptom of many different conditions, including:

1. Respiratory problems such as asthma, chronic obstructive pulmonary disease (COPD), and pneumonia.
2. Heart conditions such as heart failure and coronary artery disease.
3. Other underlying medical conditions such as anemia, lung disease, and liver failure.
4. Neurological conditions such as stroke and multiple sclerosis.
5. Psychological conditions such as anxiety and depression.

Assessment of dyspnea involves a thorough medical history and physical examination, including listening to the patient's lung sounds and assessing their oxygen saturation levels. Diagnostic tests such as chest X-rays, electrocardiograms (ECGs), and blood tests may also be ordered to determine the underlying cause of dyspnea.

Treatment of dyspnea depends on the underlying cause and may include medications, oxygen therapy, and other interventions such as pulmonary rehabilitation. In some cases, dyspnea may be a symptom of a life-threatening condition that requires immediate medical attention.

There are several possible causes of hypoventilation, including:

1. Respiratory muscle weakness or paralysis: This can be due to a variety of conditions, such as muscular dystrophy, amyotrophic lateral sclerosis (ALS), or spinal cord injury.
2. Chronic respiratory failure: This can be caused by conditions such as chronic obstructive pulmonary disease (COPD), interstitial lung disease, or pulmonary fibrosis.
3. Sleep apnea: Hypoventilation can occur during sleep due to the loss of muscle tone in the diaphragm and other respiratory muscles.
4. Anesthesia-induced hypoventilation: Some anesthetics can suppress the respiratory drive, leading to hypoventilation.
5. Drug overdose or intoxication: Certain drugs, such as opioids and benzodiazepines, can depress the central nervous system and lead to hypoventilation.
6. Trauma: Hypoventilation can occur in patients with severe injuries to the chest or abdomen that impair breathing.
7. Sepsis: Severe infections can cause hypoventilation by suppressing the respiratory drive.
8. Metabolic disorders: Certain metabolic disorders, such as diabetic ketoacidosis, can lead to hypoventilation.

Treatment of hypoventilation depends on the underlying cause and may include oxygen therapy, mechanical ventilation, and addressing any underlying conditions or complications. In some cases, hypoventilation may be a sign of a more severe condition that requires prompt medical attention to prevent further complications and improve outcomes.

The symptoms of MADD can vary in severity and may include:

* Developmental delays and learning disabilities
* Seizures
* Hypotonia (low muscle tone)
* Weakness and fatigue
* Poor appetite and growth retardation
* Vision problems
* Hearing loss

MADD is usually diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis. Treatment for MADD typically involves a combination of dietary modifications, supplements, and medications to manage the symptoms and prevent complications. In some cases, a liver transplant may be necessary.

The prognosis for individuals with MADD can vary depending on the severity of their symptoms and the presence of any other underlying health conditions. However, with appropriate treatment and management, many individuals with MADD are able to lead active and fulfilling lives.

Experimental myasthenia gravis refers to a type of myasthenia gravis that is caused by experimental or artificial means, such as through the use of drugs or other substances that mimic or trigger an immune response. This type of myasthenia gravis is often used in research settings to study the underlying mechanisms of the disease and to test new treatments.

Autoimmune myasthenia gravis, on the other hand, refers to a type of myasthenia gravis that is caused by an abnormal immune response, where the immune system mistakenly attacks the acetylcholine receptors at the neuromuscular junction. This type of myasthenia gravis is more common than experimental myasthenia gravis and can be caused by a variety of factors, such as genetic predisposition, infections, or environmental triggers.

Overall, myasthenia gravis, autoimmune, and experimental refer to different aspects of the disease, with each term having its own specific meaning and application in the medical field.

The symptoms of paresis may include weakness or paralysis of specific muscle groups, loss of sensation, tremors, and difficulty with coordination and balance. The severity of the paresis can vary depending on the underlying cause and the extent of the damage to the nervous system. Treatment options for paresis depend on the underlying cause and may include physical therapy, medications, surgery, or other interventions aimed at improving motor function and preventing complications.

In summary, paresis is a loss or impairment of motor function resulting from damage to the nervous system, and can be caused by various conditions such as stroke, traumatic brain injury, and neurological disorders. Treatment options depend on the underlying cause and may include physical therapy, medications, surgery, or other interventions aimed at improving motor function and preventing complications.

There are several types of spinal muscular atrophies, including:

Type 1 (Werdnig-Hoffmann disease): This is the most severe form of SMA, characterized by complete paralysis and life-threatening respiratory problems. It is usually diagnosed in infancy and children typically die before the age of two.

Type 2 (Dubowitz disease): This type of SMA is less severe than Type 1, but still causes significant muscle weakness and wasting. Children with this condition may be able to sit, stand, and walk with support, but will eventually lose these abilities as the disease progresses.

Type 3 (Kugelberg-Welander disease): This is an adult-onset form of SMA that causes slowly progressive muscle weakness and wasting. It can be mild or severe and may affect individuals in their teens to mid-life.

The symptoms of spinal muscular atrophies vary depending on the type and severity of the disorder, but may include:

* Muscle weakness and wasting, particularly in the limbs and trunk
* Difficulty breathing and swallowing
* Delayed development of motor skills such as sitting, standing, and walking
* Weakness of facial muscles, leading to a "floppy" appearance
* Poor reflexes and decreased muscle tone

The exact cause of spinal muscular atrophies is not fully understood, but genetics play a role. The disorders are caused by mutations in a gene called the survival motor neuron (SMN) gene, which is responsible for producing a protein that helps maintain the health of nerve cells. Without this protein, nerve cells die, leading to muscle weakness and wasting.

There is currently no cure for spinal muscular atrophies, but treatment options are available to help manage symptoms and improve quality of life. These may include:

* Physical therapy to maintain muscle strength and flexibility
* Occupational therapy to develop coping strategies and assist with daily activities
* Medications to manage muscle spasms and other symptoms
* Respiratory support, such as ventilation, for individuals with severe forms of the disorder
* Nutritional support to ensure adequate nutrition and hydration

Overall, spinal muscular atrophies are a group of rare genetic disorders that can cause muscle weakness and wasting, particularly in the limbs and trunk. While there is currently no cure, treatment options are available to help manage symptoms and improve quality of life. With appropriate care and support, individuals with spinal muscular atrophies can lead fulfilling lives.

In the medical field, fatigue is often evaluated using a combination of physical examination, medical history, and laboratory tests to determine its underlying cause. Treatment for fatigue depends on the underlying cause, but may include rest, exercise, stress management techniques, and medication.

Some common causes of fatigue in the medical field include:

1. Sleep disorders, such as insomnia or sleep apnea
2. Chronic illnesses, such as diabetes, heart disease, or arthritis
3. Infections, such as the flu or a urinary tract infection
4. Medication side effects
5. Poor nutrition or hydration
6. Substance abuse
7. Chronic stress
8. Depression or anxiety
9. Hormonal imbalances
10. Autoimmune disorders, such as thyroiditis or lupus.

Fatigue can also be a symptom of other medical conditions, such as:

1. Anemia
2. Hypoglycemia (low blood sugar)
3. Hypothyroidism (underactive thyroid)
4. Hyperthyroidism (overactive thyroid)
5. Chronic fatigue syndrome
6. Fibromyalgia
7. Vasculitis
8. Cancer
9. Heart failure
10. Liver or kidney disease.

It is important to seek medical attention if fatigue is severe, persistent, or accompanied by other symptoms such as fever, pain, or difficulty breathing. A healthcare professional can diagnose and treat the underlying cause of fatigue, improving overall quality of life.

Some common types of pharyngeal diseases include:

1. Pharyngitis: This is an inflammation of the pharynx, often caused by viral or bacterial infections. Symptoms may include sore throat, fever, and difficulty swallowing.
2. Tonsillitis: This is an inflammation of the tonsils, which are small gland-like structures located on either side of the back of the throat. Symptoms may include sore throat, fever, and difficulty swallowing.
3. Adenoiditis: This is an inflammation of the adenoids, which are small gland-like structures located in the back of the nasopharynx. Symptoms may include sore throat, fever, and difficulty breathing through the nose.
4. Epiglottitis: This is an inflammation of the epiglottis, which is a flap-like structure that covers the entrance to the larynx (voice box). Symptoms may include fever, sore throat, and difficulty breathing.
5. Laryngitis: This is an inflammation of the larynx (voice box), often caused by viral or bacterial infections. Symptoms may include hoarseness, loss of voice, and difficulty speaking.
6. Sinusitis: This is an inflammation of the sinuses, which are air-filled cavities located within the skull. Symptoms may include facial pain, headache, and nasal congestion.
7. Otitis media: This is an infection of the middle ear, often caused by viral or bacterial infections. Symptoms may include ear pain, fever, and difficulty hearing.
8. Laryngosporangium: This is a type of fungal infection that affects the larynx (voice box) and is more common in hot and humid climates. Symptoms may include hoarseness, cough, and difficulty speaking.
9. Subglottic stenosis: This is a narrowing of the airway below the vocal cords, which can be caused by inflammation or scarring. Symptoms may include difficulty breathing, wheezing, and coughing.
10. Tracheomalacia: This is a softening of the walls of the trachea (windpipe), which can cause the airway to become narrow and obstructed. Symptoms may include difficulty breathing, wheezing, and coughing.

It's important to note that these are just some of the possible causes of a sore throat and difficulty breathing, and it's always best to consult with a healthcare professional for an accurate diagnosis and appropriate treatment.

Example sentences:

1. The runner experienced a muscle cramp in her leg during the marathon, causing her to slow down and almost drop out.
2. After experiencing frequent muscle cramps, the patient was diagnosed with hypokalemia, a condition characterized by low potassium levels.
3. During pregnancy, muscle cramps are common due to changes in hormone levels and increased pressure on the musculoskeletal system.
4. The elderly man's muscle cramps were caused by a lack of physical activity and dehydration, which can be a challenge for older adults.
5. Proper stretching and warm-up exercises can help prevent muscle cramps in athletes, especially those participating in endurance sports.

Causes of Hypophosphatemia
-----------------------

There are several possible causes of hypophosphatemia, including:

1. Malnutrition or a poor diet that is deficient in phosphorus.
2. Gastrointestinal disorders such as celiac disease, inflammatory bowel disease, or gastrointestinal surgery.
3. Kidney problems such as chronic kidney disease, renal tubular acidosis, or distal renal tubular phosphate loss.
4. Hormonal imbalances such as hypoparathyroidism (underactive parathyroid glands) or hyperparathyroidism (overactive parathyroid glands).
5. Medications such as diuretics, antacids, and certain antibiotics.
6. Chronic alcoholism.
7. Genetic disorders such as X-linked hypophosphatemic rickets or familial hypophosphatemic rickets.

Symptoms of Hypophosphatemia
-------------------------

The symptoms of hypophosphatemia can vary depending on the severity and duration of the condition, but may include:

1. Weakness, fatigue, or muscle cramps.
2. Bone pain or joint stiffness.
3. Difficulty healing from injuries or infections.
4. Numbness or tingling sensations in the extremities.
5. Seizures or other neurological symptoms.
6. Respiratory problems such as shortness of breath or difficulty breathing.
7. Heart arrhythmias or cardiac failure.

Diagnosis and Treatment of Hypophosphatemia
---------------------------------------

Hypophosphatemia can be diagnosed through blood tests that measure the levels of phosphate in the blood. Treatment for hypophosphatemia typically involves correcting any underlying causes, such as stopping medications that may be causing the condition or treating underlying medical conditions.

In some cases, treatment may involve supplements to increase phosphate levels in the blood. Vitamin D and calcium supplements may also be prescribed to help maintain bone health. In severe cases of hypophosphatemia, hospitalization may be necessary to manage symptoms and prevent complications.

Prognosis and Complications of Hypophosphatemia
-----------------------------------------------

The prognosis for hypophosphatemia is generally good if the underlying cause is identified and treated promptly. However, untreated hypophosphatemia can lead to a number of complications, including:

1. Osteomalacia or osteoporosis.
2. Rickets in children.
3. Weakened immune system.
4. Increased risk of infections.
5. Nerve damage or neuropathy.
6. Cardiovascular problems such as heart arrhythmias or cardiac failure.
7. Respiratory failure.
8. Kidney damage or kidney failure.

It is important to seek medical attention if symptoms persist or worsen over time, as hypophosphatemia can lead to serious complications if left untreated.

Conclusion
----------

Hypophosphatemia is a condition characterized by low levels of phosphate in the blood. It can be caused by a variety of factors and may present with symptoms such as weakness, bone pain, and respiratory problems. Treatment typically involves correcting any underlying causes and supplements to increase phosphate levels in the blood.

Early detection and treatment are important to prevent complications of hypophosphatemia, which can include osteomalacia or osteoporosis, nerve damage, cardiovascular problems, respiratory failure, and kidney damage. If you suspect you may have hypophosphatemia, it is important to seek medical attention as soon as possible to receive proper diagnosis and treatment.

The word "osteomalacia" comes from the Greek words "osteon," meaning bone, and "malakos," meaning soft. It was first used in the medical literature in the early 20th century to describe a condition that was previously known as "rachitic osteomalacia."

The symptoms of osteomalacia can vary depending on the underlying cause, but may include bone pain, muscle weakness, fatigue, and an increased risk of fractures. Diagnosis is typically made based on a combination of clinical findings, laboratory tests, and imaging studies such as X-rays or bone scans.

Treatment of osteomalacia depends on the underlying cause, but may include vitamin D and calcium supplements, avoidance of aluminum-containing antacids, and management of any underlying disorders that are contributing to the condition. In severe cases, surgery may be necessary to repair or replace damaged bone tissue.

Preventing osteomalacia involves maintaining adequate levels of vitamin D and calcium in the body, avoiding excessive alcohol consumption, and managing any underlying medical conditions that can contribute to the condition. Early detection and treatment can help prevent complications such as fractures and improve quality of life for individuals with osteomalacia.

Some common examples of spinal cord diseases include:

1. Spinal muscular atrophy: This is a genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement. It can cause muscle weakness and wasting, as well as other symptoms such as respiratory problems and difficulty swallowing.
2. Multiple sclerosis: This is an autoimmune disease that causes inflammation and damage to the protective covering of nerve fibers in the spinal cord. Symptoms can include vision problems, muscle weakness, balance and coordination difficulties, and cognitive impairment.
3. Spinal cord injuries: These can occur as a result of trauma, such as a car accident or a fall, and can cause a range of symptoms including paralysis, numbness, and loss of sensation below the level of the injury.
4. Spinal stenosis: This is a condition in which the spinal canal narrows, putting pressure on the spinal cord and nerve roots. Symptoms can include back pain, leg pain, and difficulty walking or standing for long periods.
5. Tumors: Benign or malignant tumors can grow in the spinal cord, causing a range of symptoms including pain, weakness, and numbness or tingling in the limbs.
6. Infections: Bacterial, viral, or fungal infections can cause inflammation and damage to the spinal cord, leading to symptoms such as fever, headache, and muscle weakness.
7. Degenerative diseases: Conditions such as amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) can cause progressive degeneration of the spinal cord nerve cells, leading to muscle weakness, twitching, and wasting.
8. Trauma: Traumatic injuries, such as those caused by sports injuries or physical assault, can damage the spinal cord and result in a range of symptoms including pain, numbness, and weakness.
9. Ischemia: Reduced blood flow to the spinal cord can cause tissue damage and lead to symptoms such as weakness, numbness, and paralysis.
10. Spinal cord infarction: A blockage in the blood vessels that supply the spinal cord can cause tissue damage and lead to symptoms similar to those of ischemia.

It's important to note that some of these conditions can be caused by a combination of factors, such as genetics, age, lifestyle, and environmental factors. It's also worth noting that some of these conditions can have a significant impact on quality of life, and in some cases, may be fatal.

Muscle mass is an important component of overall body strength, and as people age, their muscles naturally begin to atrophy due to a combination of hormonal changes and disuse. This leads to a decrease in the amount of protein available for other bodily functions, which can further exacerbate the decline in physical functioning.

Sarcopenia can be caused by various factors such as inactivity, malnutrition, chronic diseases like diabetes and heart disease, and genetics. It is a major risk factor for falls, disability, and cognitive decline in the elderly population.

There is no single test to diagnose sarcopenia, but healthcare professionals use a combination of physical examination, medical history, and laboratory tests to assess muscle mass and function. Treatment options include resistance training exercises, nutritional supplements, and medications such as selective estrogen receptor modulators (SERMs) and growth hormone-releasing peptides.

In conclusion, sarcopenia is a progressive condition that affects the muscles in older adults, leading to a loss of strength and physical functioning. It can be caused by various factors, and healthcare professionals use a combination of physical examination and laboratory tests to diagnose and treat it.

There are several types of ataxia, each with different symptoms and causes. Some common forms of ataxia include:

1. Spinocerebellar ataxia (SCA): This is the most common form of ataxia and is caused by a degeneration of the cerebellum and spinal cord. It can cause progressive weakness, loss of coordination, and difficulty with speaking and swallowing.
2. Friedreich's ataxia: This is the second most common form of ataxia and is caused by a deficiency of vitamin E in the body. It can cause weakness in the legs, difficulty walking, and problems with speech and language.
3. Ataxia-telangiectasia (AT): This is a rare form of ataxia that is caused by a gene mutation. It can cause progressive weakness, loss of coordination, and an increased risk of developing cancer.
4. Acute cerebellar ataxia: This is a sudden and temporary form of ataxia that can be caused by a variety of factors such as infections, injuries, or certain medications.
5. Drug-induced ataxia: Certain medications can cause ataxia as a side effect.
6. Vitamin deficiency ataxia: Deficiencies in vitamins such as vitamin B12 or folate can cause ataxia.
7. Metabolic disorders: Certain metabolic disorders such as hypothyroidism, hyperthyroidism, and hypoglycemia can cause ataxia.
8. Stroke or brain injury: Ataxia can be a result of a stroke or brain injury.
9. Multiple system atrophy (MSA): This is a rare progressive neurodegenerative disorder that can cause ataxia, parkinsonism, and autonomic dysfunction.
10. Spinocerebellar ataxia (SCA): This is a group of rare genetic disorders that can cause progressive cerebellar ataxia, muscle wasting, and other signs and symptoms.

It's important to note that this is not an exhaustive list and there may be other causes of ataxia not mentioned here. If you suspect you or someone you know may have ataxia, it is important to consult a healthcare professional for proper diagnosis and treatment.

Body weight is an important health indicator, as it can affect an individual's risk for certain medical conditions, such as obesity, diabetes, and cardiovascular disease. Maintaining a healthy body weight is essential for overall health and well-being, and there are many ways to do so, including a balanced diet, regular exercise, and other lifestyle changes.

There are several ways to measure body weight, including:

1. Scale: This is the most common method of measuring body weight, and it involves standing on a scale that displays the individual's weight in kg or lb.
2. Body fat calipers: These are used to measure body fat percentage by pinching the skin at specific points on the body.
3. Skinfold measurements: This method involves measuring the thickness of the skin folds at specific points on the body to estimate body fat percentage.
4. Bioelectrical impedance analysis (BIA): This is a non-invasive method that uses electrical impulses to measure body fat percentage.
5. Dual-energy X-ray absorptiometry (DXA): This is a more accurate method of measuring body composition, including bone density and body fat percentage.

It's important to note that body weight can fluctuate throughout the day due to factors such as water retention, so it's best to measure body weight at the same time each day for the most accurate results. Additionally, it's important to use a reliable scale or measuring tool to ensure accurate measurements.

The exact cause of Osteitis Deformans is not known, but it is believed to be related to a combination of genetic and environmental factors. The condition typically affects people over the age of 50, and is more common in men than women.

The symptoms of Osteitis Deformans can vary depending on the severity of the condition, but may include:

* Pain in the affected bone, which can be aching or sharp
* Stiffness and limited mobility in the affected joint
* Deformity of the bone, such as curvature or thickening
* Fatigue and tiredness
* Increased risk of fractures

The diagnosis of Osteitis Deformans is typically made through a combination of physical examination, imaging tests such as X-rays or CT scans, and blood tests to rule out other conditions.

There is no cure for Osteitis Deformans, but treatment can help manage the symptoms and slow the progression of the condition. Treatment options may include:

* Pain medication
* Physical therapy to maintain mobility and strength
* Bracing or orthotics to support the affected bone
* Surgery to correct deformities or repair fractures
* Medications to prevent or treat complications such as osteoporosis.

It is important for individuals with Osteitis Deformans to work closely with their healthcare provider to manage their condition and maintain a good quality of life. With proper treatment and self-care, many people with Osteitis Deformans are able to lead active and fulfilling lives.

There are several types of hypertrophy, including:

1. Muscle hypertrophy: The enlargement of muscle fibers due to increased protein synthesis and cell growth, often seen in individuals who engage in resistance training exercises.
2. Cardiac hypertrophy: The enlargement of the heart due to an increase in cardiac workload, often seen in individuals with high blood pressure or other cardiovascular conditions.
3. Adipose tissue hypertrophy: The excessive growth of fat cells, often seen in individuals who are obese or have insulin resistance.
4. Neurological hypertrophy: The enlargement of neural structures such as brain or spinal cord due to an increase in the number of neurons or glial cells, often seen in individuals with neurodegenerative diseases such as Alzheimer's or Parkinson's.
5. Hepatic hypertrophy: The enlargement of the liver due to an increase in the number of liver cells, often seen in individuals with liver disease or cirrhosis.
6. Renal hypertrophy: The enlargement of the kidneys due to an increase in blood flow and filtration, often seen in individuals with kidney disease or hypertension.
7. Ovarian hypertrophy: The enlargement of the ovaries due to an increase in the number of follicles or hormonal imbalances, often seen in individuals with polycystic ovary syndrome (PCOS).

Hypertrophy can be diagnosed through various medical tests such as imaging studies (e.g., CT scans, MRI), biopsies, and blood tests. Treatment options for hypertrophy depend on the underlying cause and may include medications, lifestyle changes, and surgery.

In conclusion, hypertrophy is a growth or enlargement of cells, tissues, or organs in response to an excessive stimulus. It can occur in various parts of the body, including the brain, liver, kidneys, heart, muscles, and ovaries. Understanding the underlying causes and diagnosis of hypertrophy is crucial for effective treatment and management of related health conditions.

The burden of chronic diseases is significant, with over 70% of deaths worldwide attributed to them, according to the World Health Organization (WHO). In addition to the physical and emotional toll they take on individuals and their families, chronic diseases also pose a significant economic burden, accounting for a large proportion of healthcare expenditure.

In this article, we will explore the definition and impact of chronic diseases, as well as strategies for managing and living with them. We will also discuss the importance of early detection and prevention, as well as the role of healthcare providers in addressing the needs of individuals with chronic diseases.

What is a Chronic Disease?

A chronic disease is a condition that lasts for an extended period of time, often affecting daily life and activities. Unlike acute diseases, which have a specific beginning and end, chronic diseases are long-term and persistent. Examples of chronic diseases include:

1. Diabetes
2. Heart disease
3. Arthritis
4. Asthma
5. Cancer
6. Chronic obstructive pulmonary disease (COPD)
7. Chronic kidney disease (CKD)
8. Hypertension
9. Osteoporosis
10. Stroke

Impact of Chronic Diseases

The burden of chronic diseases is significant, with over 70% of deaths worldwide attributed to them, according to the WHO. In addition to the physical and emotional toll they take on individuals and their families, chronic diseases also pose a significant economic burden, accounting for a large proportion of healthcare expenditure.

Chronic diseases can also have a significant impact on an individual's quality of life, limiting their ability to participate in activities they enjoy and affecting their relationships with family and friends. Moreover, the financial burden of chronic diseases can lead to poverty and reduce economic productivity, thus having a broader societal impact.

Addressing Chronic Diseases

Given the significant burden of chronic diseases, it is essential that we address them effectively. This requires a multi-faceted approach that includes:

1. Lifestyle modifications: Encouraging healthy behaviors such as regular physical activity, a balanced diet, and smoking cessation can help prevent and manage chronic diseases.
2. Early detection and diagnosis: Identifying risk factors and detecting diseases early can help prevent or delay their progression.
3. Medication management: Effective medication management is crucial for controlling symptoms and slowing disease progression.
4. Multi-disciplinary care: Collaboration between healthcare providers, patients, and families is essential for managing chronic diseases.
5. Health promotion and disease prevention: Educating individuals about the risks of chronic diseases and promoting healthy behaviors can help prevent their onset.
6. Addressing social determinants of health: Social determinants such as poverty, education, and employment can have a significant impact on health outcomes. Addressing these factors is essential for reducing health disparities and improving overall health.
7. Investing in healthcare infrastructure: Investing in healthcare infrastructure, technology, and research is necessary to improve disease detection, diagnosis, and treatment.
8. Encouraging policy change: Policy changes can help create supportive environments for healthy behaviors and reduce the burden of chronic diseases.
9. Increasing public awareness: Raising public awareness about the risks and consequences of chronic diseases can help individuals make informed decisions about their health.
10. Providing support for caregivers: Chronic diseases can have a significant impact on family members and caregivers, so providing them with support is essential for improving overall health outcomes.

Conclusion

Chronic diseases are a major public health burden that affect millions of people worldwide. Addressing these diseases requires a multi-faceted approach that includes lifestyle changes, addressing social determinants of health, investing in healthcare infrastructure, encouraging policy change, increasing public awareness, and providing support for caregivers. By taking a comprehensive approach to chronic disease prevention and management, we can improve the health and well-being of individuals and communities worldwide.

There are several possible causes of muscle rigidity, including:

1. Injury: Muscle rigidity can be a result of direct trauma to the muscle, such as a strain or sprain.
2. Infection: Certain infections, such as Lyme disease or endocarditis, can cause muscle rigidity as a symptom.
3. Neurological disorders: Conditions such as multiple sclerosis, Parkinson's disease, and stroke can all cause muscle rigidity due to damage to the nervous system.
4. Medication side effects: Certain medications, such as steroids and certain antidepressants, can cause muscle rigidity as a side effect.
5. Metabolic disorders: Conditions such as hypocalcemia (low calcium levels) and hyperthyroidism can cause muscle rigidity.
6. Autoimmune disorders: Conditions such as polymyositis and dermatomyositis can cause muscle rigidity due to inflammation of the muscles.

Symptoms of muscle rigidity may include:

* Stiffness or inflexibility in the affected muscles
* Pain or tenderness in the affected area
* Limited range of motion in the affected joints
* Muscle spasms or cramps
* Fatigue or weakness

Treatment for muscle rigidity will depend on the underlying cause. In some cases, medication may be prescribed to relax the muscles and improve mobility. Physical therapy and exercise may also be helpful in improving range of motion and strength. In other cases, treatment may involve addressing the underlying condition or disorder that is causing the muscle rigidity.

Mitochondrial diseases can affect anyone, regardless of age or gender, and they can be caused by mutations in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). These mutations can be inherited from one's parents or acquired during embryonic development.

Some of the most common symptoms of mitochondrial diseases include:

1. Muscle weakness and wasting
2. Seizures
3. Cognitive impairment
4. Vision loss
5. Hearing loss
6. Heart problems
7. Neurological disorders
8. Gastrointestinal issues
9. Liver and kidney dysfunction

Some examples of mitochondrial diseases include:

1. MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes)
2. Kearns-Sayre syndrome (a rare progressive disorder that affects the nervous system and other organs)
3. Chronic progressive external ophthalmoplegia (CPEO), which is characterized by weakness of the extraocular muscles and vision loss
4. Mitochondrial DNA depletion syndrome, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
5. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
6. Leigh syndrome, which is a rare genetic disorder that affects the brain and spinal cord.
7. LHON (Leber's Hereditary Optic Neuropathy), which is a rare form of vision loss that can lead to blindness in one or both eyes.
8. Mitochondrial DNA mutation, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
9. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
10. Kearns-Sayre syndrome, which is a rare progressive disorder that affects the nervous system and other organs.

It's important to note that this is not an exhaustive list and there are many more mitochondrial diseases and disorders that can affect individuals. Additionally, while these diseases are rare, they can have a significant impact on the quality of life of those affected and their families.

Examples of Nervous System Diseases include:

1. Alzheimer's disease: A progressive neurological disorder that affects memory and cognitive function.
2. Parkinson's disease: A degenerative disorder that affects movement, balance and coordination.
3. Multiple sclerosis: An autoimmune disease that affects the protective covering of nerve fibers.
4. Stroke: A condition where blood flow to the brain is interrupted, leading to brain cell death.
5. Brain tumors: Abnormal growth of tissue in the brain.
6. Neuropathy: Damage to peripheral nerves that can cause pain, numbness and weakness in hands and feet.
7. Epilepsy: A disorder characterized by recurrent seizures.
8. Motor neuron disease: Diseases that affect the nerve cells responsible for controlling voluntary muscle movement.
9. Chronic pain syndrome: Persistent pain that lasts more than 3 months.
10. Neurodevelopmental disorders: Conditions such as autism, ADHD and learning disabilities that affect the development of the brain and nervous system.

These diseases can be caused by a variety of factors such as genetics, infections, injuries, toxins and ageing. Treatment options for Nervous System Diseases range from medications, surgery, rehabilitation therapy to lifestyle changes.

Proximal muscle weakness affects muscles closest to the body's midline, while distal muscle weakness affects muscles further ... True muscle weakness (or neuromuscular weakness) describes a condition where the force exerted by the muscles is less than ... Proximal muscle weakness can be seen in Cushing's syndrome and hyperthyroidism.[citation needed] Muscle weakness can be ... Its causes are many and can be divided into conditions that have either true or perceived muscle weakness. True muscle weakness ...
It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other ... muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by ... "The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase ...
... muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled ...
Thickened nerves are associated with leprosy and can be accompanied by loss of sensation or muscle weakness, but muscle ... An infected person may also experience muscle weakness and poor eyesight. Leprosy symptoms may begin within one year, but, for ... and muscle weaknesses or paralysis in the area affected. The skin can crack and if the skin injuries are not carefully cared ... muscle weakness; reddish skin; smooth, shiny, diffuse thickening of facial skin, ear, and hand; loss of sensation in fingers ...
... marked muscle weakness; supernumerary nipples; abnormal facial features such as frontal bossing, high frontal hairline, balding ...
... fatigue and muscle weakness; weight loss; and in some cases shortness of breath and chest pain. A person with these symptoms ...
Adult-onset muscle weakness. Accumulation of the intermediate filament desmin in the myofibers of the patients. Unknown ... Muscle Nerve. 1993 Jan;16(1):57-62. doi: 10.1002/mus.880160110. PMID: 8423832. "Glycogen Storage Disease Type I - NORD ( ... typically in muscles and/or liver cells. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any ... A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 76(6):891-898 Ludwig M, Wolfson S, ...
They can often have muscle weakness. These symptoms are caused by the lack of creatine in skeletal muscles and in the brain. ... For treatment at any age, even if intellectual disability was present, all individuals showed improvement in muscle weakness. ... Individuals with AGAT deficiency are intellectually disabled and have muscle weakness. The symptoms of AGAT deficiency are ... there is significant phenotypic overlap with the most common presenting symptoms of intellectual disability and muscle weakness ...
The muscle weakness is generally symmetric. Usually, the hip girdle is the first area to exhibit weakness, manifesting as ... By definition, all limb girdle muscular dystrophies (LGMD) cause progressive proximal weakness, meaning weakness of the muscles ... Pseudohypertrophy Muscle hypertrophy Respiratory muscle problems Low back discomfort Distal muscle problems Winged scapula In ... damage muscles permanently due to intense muscle contraction. Physical therapy may be required to maintain as much muscle ...
Muscle weakness caused by recurrent infections. Symptoms for females: Very rarely seen hearing loss that begins in adulthood ( ... Weak muscle tone - Hypotonia. Impaired muscle coordination - Ataxia. Developmental delay. Intellectual disability. Vision loss ... Syndromes affecting muscles, Syndromes affecting the nervous system, Syndromes with sensorineural hearing loss, Genetic ... Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent ...
Motor symptoms consistent of muscle weakness; sensory symptoms or paresthesias consist of numbness or tingling in the areas ... compression by anterior scalene muscles Problems originating in the chest: compression by pectoralis minor muscles Brachial ... Ulnar nerve damage that causes paralysis to these muscles will result in a characteristic ulnar claw position of the hand at ... A simple way of differentiating between significant median and ulnar nerve injury is by testing for weakness in flexing and ...
... of the muscles in the hands, feet and legs, chronic muscular weakness which is very apparent when exercise is being done, ... thigh and forearm muscles, foot drop-associated gait problems, hand weakness, hyporeflexia, and tongue percussion, his younger ... upper and lower distal muscle weakness. Both siblings were revealed to have a chronic motor neuropathy, peripheral nerve fiber ... Muscle biopsies performed in the brother detected chronic partial denervation. Through the siblings reported by Hahn et al. and ...
The overuse and underuse of muscles also may contribute to muscle weakness. Another theory is that people who have recovered ... Changes in muscle strength are determined in specific muscle groups using various muscle scales that quantify] strength, such ... This causes muscle weakness and paralysis. Restoration of nerve function may occur in some fibers a second time, but eventually ... decreased muscle mass), weakness, pain, and fatigue in limbs that were originally affected or in limbs that did not seem to ...
Additionally, lower motor neurons are characterized by muscle weakness, hypotonia, hyporeflexia and muscle atrophy. Spinal ... Neurogenic shock lasts for weeks and can lead to a loss of muscle tone due to disuse of the muscles below the injured site. The ... These include hyperreflexia, hypertonia and muscle weakness. Lower motor neuronal damage results in its own characteristic ... Overall, spontaneous embryonic activity has been shown to play a role in neuron and muscle development but is probably not ...
IBM2 causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 - 30 years, although ... A 2009 review noted that muscle weakness usually begins after age 20 and after 20-30 years, the person usually requires a wheel ... The weakness and severity can vary from person to person. In some, weakness in the legs is noticed first. In some others, the ... Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion ...
Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual ... Muscle weakness is often absent or subtle. Some females will tire easily with exercise Cardiomyopathy is often absent in ... Features of Danon disease in males are:[citation needed] An early age of onset of muscle weakness and heart disease (onset in ... Microscopically, muscles from Danon disease patients appear similar to muscles from Pompe disease patients. However, ...
In general, the symptoms are: Muscle weakness. Difficulty in motor acquisitions or absence of them. Poor control of the head ... muscle weakness, motor difficulties and lack of control in the movement of the head, respiratory failure and cardiac ... Unlike most muscular dystrophies, lamin A/C CMD does not present a breakdown of muscular fibres caused by muscle degeneration. ...
Weakness or muscle weakness (especially in the large muscles of the arms and legs). This latter occurs in 60 to 80 percent of ... Muscle weakness is rarely the chief complaint. The likelihood and degree of muscle weakness is correlated with the duration and ... Muscle strength returns gradually over several months after the hyperthyroidism has been treated. Muscle degeneration Shortness ... Limitation of eye movement (due to impairment of eye muscle function). Periorbital and conjunctival edema (accumulation of ...
... generalized body weakness, aphasia, and somnolence. Severe cases might exhibit proximal muscle weakness. There are various ... by childhood-onset progressive severe muscle weakness and atrophy of the distal lower limbs and intrinsic hand muscles, ... progressive distal muscle weakness and atrophy which begins in the lower limbs and spreads to the upper limbs, distal upper and ... muscle weakness and atrophy of the distal extremities (mostly involving feet, legs, and the thenar eminence of the hands), loss ...
Muscle weakness may persist for several days following treatment.[medical citation needed] It is unclear whether dantrolene has ... Benzodiazepines may also cause additive muscle weakness. Combined oral contraceptives and hormone replacement therapy with ... is a postsynaptic muscle relaxant that lessens excitation-contraction coupling in muscle cells. It achieves this by inhibiting ... A new class of muscle relaxants". J Med Chem. 10 (5): 807-10. doi:10.1021/jm00317a011. PMID 6048486. Ellis KO, Castellion AW, ...
This causes some muscle weakness in the legs. A full recovery is usually expected. Lumbosacral trunk Ramus communicans.Sacral ...
Muscle weakness can be found with either presentation. In countries with expanded newborn screening, SPCD can be identified ... Later cases were reported with cardiomyopathy and muscle weakness. Newborn screening expanded the potential phenotypes ... leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The ... Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, ...
Long term deficiency in vitamin E might cause muscle weakness as well as loss of muscle mass, abnormal eye movements and even ... such as weakness, muscle atrophy, twitching); headaches; disturbances in sensations; changes in nerve responses; performance ...
Diabetic amyotrophy is muscle weakness due to neuropathy. Diabetic retinopathy, growth of friable and poor-quality new blood ... Diabetic cardiomyopathy, damage to the heart muscle, leading to impaired relaxation and filling of the heart with blood ( ... muscle wasting') Peripheral vascular disease, which contributes to intermittent claudication (exertion-related leg and foot ...
This disease causes fluctuating muscle weakness and fatigue. The disease occurs due to detectable antibodies produced against ... The use of transgenic models such as those used for discovery of the mimicry events leading to diseases of the CNS and muscle ...
Muscle weakness and cramping are not uncommon symptoms, but they are not as common as they are in human PFKM deficiency.[ ... Muscle weakness and pain are not as common in patients with hemolytic PFK deficiency.[citation needed] Presentation of the ... This type presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with ... "Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency". Journal of the Neurological Sciences. 316 (1-2): ...
... is a medical term for muscle weakness. The term may also refer to: Myasthenia gravis Ocular myasthenia Lambert-Eaton ...
Signs and symptoms vary between people and may include irritability, muscle weakness, sleeping problems, a fast heartbeat, heat ... Extraocular muscle weakness may present with double vision. In lid-lag (von Graefe's sign), when the person tracks an object ... extraocular muscle weakness, and lid-lag. In hyperthyroid stare (Dalrymple sign) the eyelids are retracted upward more than ... muscle aches, weakness, fatigue, hyperactivity, irritability, high blood sugar, excessive urination, excessive thirst, delirium ...
Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive muscle weakness of the legs and pelvis ... Spinal and bulbar muscular atrophy; muscle cramps and progressive weakness Lesch-Nyhan syndrome; neurologic dysfunction, ... It is characterized by rapid progression of muscle degeneration, eventually leading to loss of skeletal muscle control, ... Centronuclear myopathy; where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a ...
... muscle weakness, and incoordination; occupational therapy contributing to restoration of function (23 min). PMF 5116C (1950) - ... cords to selected muscle and then to prosthetic appliance so that patient can operate appliance by contracting muscles in ... overcoming a definite weakness or loss of function; heavy resistance phase (29 min). PMF 5057 - PMF 5058 (1950) - The Medical ... motor power from muscles controlled by peripheral nerves originating in spinal cord; motor impulses from brain through ...
... infarction not elsewhere classified other 429.8 Other ill-defined heart diseases 429.81 Other disorders of papillary muscle ... cerebrovascular disease 438.81 Apraxia cerebrovascular disease 438.82 Dysphagia cerebrovascular disease 438.83 Facial weakness ... 429.4 Functional disturbances following cardiac surgery 429.5 Rupture of chordae tendineae 429.6 Rupture of papillary muscle ...
General lethargy, weakness, muscle aches, headaches, and low-grade fevers may occur. The disease is usually self-limiting, and ... Sometimes there is loss of taste, general lethargy, weakness, muscle aches, headache, cough, and/or low-grade fever. The ...
Symptoms usually occur within a few hours, producing unsteadiness and weakness, depression, nausea and vomiting, twisting of ... the neck muscles, rapid and weak pulse, difficulty breathing, and eventually death.[citation needed] The plant also has been ...
The very weakness of American military power encouraged the German Empire to start its unrestricted submarine attacks in 1917. ... philosophy of world affairs-they believed that economic strength and military muscle were more decisive than idealistic ...
... one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the ... Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, ... Congenital heart disease and facial weakness, a hitherto unrecognized association". Arch Dis Child. 44 (233): 69-75. doi: ... When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler ...
Rapid weight gain Moodiness, irritability, or depression Muscle and bone weakness Memory and attention dysfunction Osteoporosis ... proximal muscle weakness (hips, shoulders), and hirsutism (facial male-pattern hair growth), baldness and/or extremely dry and ... weak muscles, weak bones, acne, and fragile skin that heals poorly. Women may have more hair and irregular menstruation. ...
... dysarthia and muscle weakness. Staining of skeletal muscle samples with hematoxylin and eosin may reveal the ragged red fibers ...
Side effects of lormetazepam include: Somnolence Paradoxical increase in aggression Lightheadedness Confusion Muscle weakness ... and pain Muscle pain, weakness, tension, painful tremor, shaking attacks, jerks, blepharospasm Excitability, jumpiness, and ... It possesses hypnotic, anxiolytic, anticonvulsant, sedative, and skeletal muscle relaxant properties. It was patented in 1961 ...
... leads to muscle weakness and causes disability. Disuse causes rapid muscle atrophy and often occurs during ... Muscle atrophy can be asymptomatic and may go undetected until a significant amount of muscle is lost. Skeletal muscle serves ... in which the muscle is compromised primarily by declines in muscle protein synthesis rates rather than changes in muscle ... Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide ...
After returning from the examination to the hotel, he fell ill with nausea, followed by physical weakness. On 12 April, he ... The additional weight appeared to be muscle. The fight lasted only two rounds. In the first round, Klitschko knocked Jefferson ... The fight was contingent on Klitschko's recovery from a torn abdominal muscle. The contract was written so that if Klitschko ... The additional weight appeared to be muscle. In the first round, both fighters were cautious, patiently studying each other. ...
... hardening of the muscle upon trigger point palpation, pseudo-weakness of the involved muscle, referred pain, and limited range ... Myofascial pain is pain in muscles or fascia (a type of connective tissue that surrounds muscles). It can occur in distinct, ... Once the trigger points are gone, muscle strengthening exercise can begin, supporting long-term health of the local muscle ... Because any muscle or fascia in the body may be affected, this may cause a variety of localized symptoms.[citation needed] ...
... delivering the blow not with his muscles but with the combined weight of himself and his charging stallion (White, 2)." White ... he would have made the weakness of his argument less obvious, but the fundamental failure would remain: the stirrup cannot ...
The major muscles impacted involve four (4) motions important to locomotion: Thigh muscles responding to cutaneous reflex Lower ... arm movements or challenging environments has potential implications in rehabilitation for patients with motor weakness. Some ... Observed EMG muscle responses to SF stimulation help to explain how this reflexive response is accomplished: Increased biceps ... The response is, therefore, one which activates the leg muscles in a way as to prepare for that possibility. EMG responses to ...
Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just ... This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. Those with Parsonage-Turner ... As such, the muscles usually involved are the supraspinatus and infraspinatus, which are both innervated by the suprascapular ...
His back muscles were weak. There was also weakness of the face and left hand. Pain in the legs and inability to urinate ... weakness of the right triceps, and gross muscle twitching in both forearms.: 234 October 28: Roosevelt was transferred from ... He was able to perform small exercises on his own, moving one muscle and then another. He was fitted with heavy steel braces ... Lovett continued to consult from Boston.: 76 There was pain in the legs, paralysis of the legs, muscle wasting in the lower ...
... muscle pain, pain in a limb, arthritis, weakness, edema, fever, chills, myasthenia gravis, and flu-like symptoms. Pembrolizumab ...
In individuals with chronic milk-alkali syndrome (Burnett syndrome), symptoms may include muscle aches, psychosis, tremor, ... weakness, confusion, irritability, dry mouth, and repulsion to milk. ...
They may cause pressure on the spinal cord or cauda equina, which may present as pain, muscle weakness, or dysfunction of the ...
Weakness in the orbital septum may cause the herniation of the orbital fat pads. This is observed as the presence of bulges ( ... Dermatochalasis can be a major contributing factor for headaches due to tonic reflex contraction of muscles in an attempt to ... In blepharoplasty surgery, excess skin, muscle and fat are removed. While the improvement of vision is an indication for ... Normally, in Caucasians, the orbicularis muscle and overlying skin form a crease near the tarsal border. In dermatochalasis, ...
... muscle weakness, fevers, and other flu-like symptoms". Withdrawal symptoms have also been reported in newborns whose mothers ... Oxycodone has a volume of distribution of 2.6L/kg, in the blood it is distributed to skeletal muscle, liver, intestinal tract, ... The symptoms of oxycodone withdrawal, as with other opioids, may include "anxiety, panic attack, nausea, insomnia, muscle pain ...
Transient muscle pains and joint pains are also common. In about 10-15% of untreated people Lyme causes neurological problems ... Lyme radiculopathy is an inflammation of spinal nerve roots that often causes pain and less often weakness, numbness, or ... Some people develop a fever and muscle and joint pains from treatment, which may last for one or two days. In those who develop ... Remaining people are considered cured but continue to experience subjective symptoms, e.g. joint or muscle pains or fatigue. ...
It also causes weakness, hypotonia (low-muscle tone), and diminished reflexes. Perceptual effects of flaccid dysarthria can ... Other: Flaccid paralysis can cause muscles to atrophy or lose mass over time. Twitches in the affected muscle fibres ( ... If the muscles of the face are affected (i.e. if there is damage to cranial nerve VII; V for the jaw in mastication), there may ... affecting different muscles, depending on where the damage has occurred. Some common signs include the following Phonation and ...
Physical effects including nausea, vomiting, euphoria, muscle weakness or relaxation, drowsiness, and lack of coordination may ...
Strains typically present with pain, cramping, muscle spasm, and muscle weakness, and fractures typically present with bone ... Prolonged immobilization can delay the healing of a sprain, as it usually leads to muscle atrophy and weakness. Although ... An equivalent injury to a muscle or tendon is known as a strain. The majority of sprains are mild, causing minor swelling and ... often caused by poor lifting mechanics and weak core muscles. Treatment of sprains usually involves incorporating conservative ...
Kegel exercises to strengthen or retrain pelvic floor muscles and sphincter muscles can reduce stress leakage. Patients younger ... and menopause often contribute to stress incontinence by causing weakness to the pelvic floor or damaging the urethral ... The urethra is normally supported by fascia and muscles of the pelvic floor. If this support is insufficient due to any reason ... The idea is to replace the deficient pelvic floor muscles and provide a backboard of support under the urethra. Transvaginal ...
Symptoms include pain, muscle weakness, and sensory deficits (numbness). There are two main types of plexopathy, based on the ...
When symptoms occur they typically include fever, weakness, headaches, vomiting, and muscle pains. Less commonly there may be ... These mild symptoms may include fever, tiredness, weakness, and headache. In 20% of people more severe symptoms such as ...
Tips for clinicians on how to evaluate a patient presenting with acute flaccid weakness. ... Patients with weakness in the hip muscles might not be able to lift the leg on the affected side, possibly not clearing the toe ... Patients with weakness in the neck and muscles of the shoulder girdle that control this movement might not be able to shrug ... Unexplained proximal muscle weakness in patients can occur in some neurologic conditions and can be easily missed during exams ...
... - Featured Topics from the National Center for Health Statistics ... Prevalence of Reduced Muscle Strength in Older U.S. Adults: United States, 2011-2012. Muscle weakness is linked to impaired ... Sarcopenia Project recently developed sex-specific criteria to diagnose different degrees of muscle strength (i.e., weak, ...
Evidence found that chronic heavy alcohol use affects a gene involved in mitochondrial repair and muscle regeneration. ... Muscle weakness seen in alcoholism linked to mitochondrial repair issues. Muscle weakness from long-term alcoholism may stem ... "The finding gives insight into why chronic heavy drinking often saps muscle strength and it could also lead to new targets for ... "The finding gives insight into why chronic heavy drinking often saps muscle strength and it could also lead to new targets for ...
Illness-associated muscle weakness in dystroglycanopathies Courtney R Carlson 1 , Steven D McGaughey 2 , Jamie M Eskuri 2 , ... Illness-associated muscle weakness in dystroglycanopathies Courtney R Carlson et al. Neurology. 2017. . ... Skelet Muscle. 2019 Aug 7;9(1):21. doi: 10.1186/s13395-019-0206-1. Skelet Muscle. 2019. PMID: 31391079 Free PMC article. Review ... We noted a recurring syndrome of profound transient weakness in the setting of febrile illness. To determine the frequency of ...
ATF4 seems to change skeletal muscle with age, reducing protein synthesis and overall mass. ... even simple tasks become challenging as we lose bone and muscle. Now research has identified a protein behind this age-related ... Everything starts to go downhill as we get older and muscle is no exception; ... Aging Causes Muscle Weakness And Atrophy, But Can We Treat It? Posted by Roy in categories: health, life extension. ...
... of the muscles of the head and neck, spine, and ribs). ... Abnormal muscle physiology*Muscle weakness*Axial muscle ... generalized muscle weakness and atrophy, and difficulty walking or running. Affected individuals show proximal muscle weakness ... In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features ... is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and ...
... scientists found evidence that chronic heavy alcohol use affects a gene involved in mitochondrial repair and muscle ... Muscle weakness from long-term alcoholism may stem from an inability of mitochondria, the powerhouses of cells, to self-repair ... Muscle weakness from long-term alcoholism may stem from an inability of mitochondria, the powerhouses of cells, to self-repair ... Muscle weakness seen in alcoholism linked to mitochondrial repair issues News Release ...
Muscle weakness Raltegravir (Isentress) is a highly effective and generally safe part of potent combination therapy for HIV ... been rare reports of cases of raltegravir-associated rhabdomyolysis-the breakdown of muscle tissue leading to muscle weakness. ... When muscles are damaged they release myoglobin into the blood. This protein and the products into which it is broken down can- ... Muscles are highly active tissues, which require a lot of oxygen. They contain a protein called myoglobin that captures oxygen ...
Is there a relationship between hip muscle weakness in some muscles and correlating tightness in others? Yes! But, its ... Is there a relationship between hip muscle weakness in some muscles and correlating tightness in others? Yes! But, its ... NFPT Live: The Relationship Between Hip Muscle Weakness and Correlating Tightness - Ep 44. Posted May 17th, 2018 by Beverly ... Is there a relationship between hip muscle weakness and correlating tightness? (2:10) ...
"This is itself an important finding as it shows that vitamin D deficiency heightens the risk of muscle weakness by 70 percent. ... These findings offer evidence that the risk of muscle weakness is heightened by both vitamin D deficiency and insufficiency. " ... Actually, its a hormone and its many roles include helping to repair muscles and releasing calcium for muscle contraction ... the researchers found that the risk of developing muscle weakness after four years was 78 percent higher for individuals with ...
What causes pelvic floor muscle weakness?. Some women are born with weak pelvic muscles, but pelvic floor muscle weakness is ... The most unavoidable cause of pelvic floor muscle weakness is natural atrophy (muscle deterioration) which occurs as a result ... What is the Pelvic Floor Muscle?. The pelvic floor muscle (Pubococcygeal) is a large group of muscles suspended across the ... Pelvic Floor Muscle Weakness. Your Pelvic Health , Discreet Pelvic Floor Exerciser , Features & Benefits , Discreet Science , ...
Intensive care unit-acquired muscle weakness (ICUAW) has an incidence of 40-46%. Early mobilisation is known to be a protective ... Care and treatments related to intensive care unit-acquired muscle weakness: A cohort study.. ... Care and treatments related to intensive care unit-acquired muscle weakness: A cohort study. ... Care and treatments related to intensive care unit-acquired muscle weakness: A cohort study. ...
Best Whey Proteins for Packing on Muscle, Shredding Down, Meal Replacement, and More. Best Pre-Workouts for Building Muscle, ... The Problem Is You: Time to Face Your Weaknesses. Its hard as an athlete to see your own training needs objectively. Thats ... The saying is "train your weaknesses but play your strengths." Because the rest of the story is that this young man was so ... 2023 · Breaking Muscle · Terms of Use · Privacy Policy · Affiliate Disclaimer · Accessibility · About ...
18.6 Examination of hands and feet for muscle weakness. By testing the strength of the voluntary muscles (which means the ... 18.6 Examination of hands and feet for muscle weakness*18.6.1 Little finger out test of ulnar nerve function ... Paralysed (P): the muscle has lost all strength and cannot produce any movement; ... muscles we can move at will, e.g. in our arms and legs), you can find out if the persons nerve function is normal, or has been ...
We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways ... Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Publication. Publication ... Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nature Communications, ... Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. In a ...
Although it has been reported that a muscles strength is directly tied to its mass, a university news release indicates that ... Muscle Weakness in Aging Populations Could Be the Result of a Communication Breakdown in the Brain. Apr 30, 2015 , Research & ... Results from their study suggest that muscle weakness in aging populations may be occurring due to, in part, a breakdown in ... "Many people are adversely affected by age-related muscle weakness," Heritage College Executive Dean Kenneth H. Johnson, DO, ...
He and his wife noticed associated new and worsening muscle weakness that started 3 to 4 days after the onset of the rash and ... His confusion, muscle weakness, and transaminitis rapidly improved.. His Lyme antibody panel was positive for IgM after his ... He and his wife noticed associated new and worsening muscle weakness that started 3 to 4 days after the onset of the rash and ... Because of the confusion, severity of muscle weakness, and plausibility of early encephalopathy with Lyme disease, the patient ...
Dive into the research topics of Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ... T2 - ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (J ... Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb ... title = "Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb ...
Muscle weakness. Little evidence suggests that intrinsic muscle weakness is a major contributor to upper airway dysfunction in ... Therefore, even if a major weakness is not present, the mechanical disadvantage imposed by muscle shortening or by displacement ... During wakefulness, neural input to a number of small muscle groups in the pharynx maintains muscle tone and airway patency. ... and sternohyoid muscles. These muscles tend to promote a patent pharyngeal lumen and receive phasic activation in synchrony ...
Muscle weakness and neurologic deficits. Muscle weakness and focal neurologic deficits such as tetraparesis [40] may be the ... Aggressively treat respiratory failure, which may ensue once muscle weakness involves the diaphragm, and support ventilation in ...
Weakness is reduced strength in one or more muscles. ... Weakness of the muscles of the face (Bell palsy). *Group of ... MUSCLE DISEASES. *Inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis (Becker muscular ... Weakness may be all over the body or in only one area. Weakness is more noticeable when it is in one area. Weakness in one area ... Group of inherited disorders that cause muscle weakness and loss of muscle tissue (muscular dystrophy) ...
Muscle injury or weakness. If the muscles in your anus, pelvic floor, or rectum are injured or weakened, they may not be able ... damage to or weakness of the muscles of your anus, pelvic floor, or rectum ... If you have urge incontinence, your pelvic floor muscles may be too weak to hold back a bowel movement due to muscle injury or ... Pelvic floor muscle exercises. Pelvic floor muscle exercises, also called Kegel exercises, can improve fecal incontinence ...
Muscle Weakness. Beta-adrenergic blockade has been reported to potentiate muscle weakness consistent with certain myasthenic ...
by Michele Forsberg , Jun 21, 2022 , Alignment, Manual Therapy, Pelvic Dysfunction, Pelvic Organ Prolapse. It can feel pretty scary to consider your organs might be falling out, especially if you dont know why its happening or how to fix pelvic organ prolapse. Let me share a little story about prolapse and what I know now that will hopefully give you peace of ...
The information contained on this website is for informational purposes only. It is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified healthcare provider before starting any new treatment, or with any questions you may have regarding a medical condition.. ...
Also, my muscle tone is amazing, even though I have not increased my workout routine. ...
Weakness in masseter, facial, and bulbar muscles have been observed but no muscle group seems to be spared. Atrophy of facial ... Neurogenic muscle weakness can be marked and muscle biopsy may show partial denervation. Some patients have hearing loss. A few ... General muscle weakness is often present. No abnormalities have been seen on brain imaging. ... Patients are described as hypotonic and there is generalized muscle weakness both proximal and distal. Distal sensory ...
The intermediate syndrome is a delayed-onset of muscular weakness and paralysis following an episode of acute cholinesterase ... Muscle weakness and paralysis of. Muscles enervated by cranial nerves. Different combinations of muscles enervated by cranial ... Intermediate Syndrome is a Delayed Onset of Muscle Weakness and Paralysis. The intermediate syndrome is a delayed-onset of ... Proximal limb muscle weakness. This most typically involved shoulder abductors and hip flexors. ...
January is national thyroid awareness month. This butterfly-shaped gland, located at the base of your neck, manufactures hormones that regulate your bodys metabolism. Different disorders can arise when your thyroid produces too …. ...
  • Unexplained proximal muscle weakness in patients can occur in some neurologic conditions and can be easily missed during exams that only focus on distal strength. (cdc.gov)
  • When examining patients with sudden limb, neck, or trunk weakness, for proximal muscle strength remember head, shoulders, knees, and toes . (cdc.gov)
  • The animations below illustrate some movements that can be useful in proximal muscle weakness assessment and are accompanied by questions that can be used to further evaluate weakness in one or more body area(s). (cdc.gov)
  • Trying to assess for proximal weakness through several age-appropriate focused questions and movements can be helpful. (cdc.gov)
  • Examine both sides for comparison and document both proximal and distal muscle strength, tone, and reflexes . (cdc.gov)
  • Disclaimer: This webpage is for informational purposes only to demonstrate areas in which proximal muscle weakness in patients may be observed. (cdc.gov)
  • Proximal muscle weakness can assist clinicians in increasing their suspicion of AFM. (cdc.gov)
  • Findings of proximal muscle weakness should be used in conjunction with a thorough history, full physical exam, and other neurodiagnostic studies. (cdc.gov)
  • Affected individuals show proximal muscle weakness with axial and shoulder girdle involvement, external ophthalmoplegia, and bulbar weakness, often resulting in feeding difficulties and respiratory insufficiency. (nih.gov)
  • Aging Causes Muscle Weakness And Atrophy, But Can We Treat It? (lifeboat.com)
  • Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. (nih.gov)
  • Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. (nih.gov)
  • In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk. (nih.gov)
  • Congenital myopathy-1B (CMYP1B) is an autosomal recessive disorder of skeletal muscle characterized by severe hypotonia and generalized muscle weakness apparent soon after birth or in early childhood with delayed motor development, generalized muscle weakness and atrophy, and difficulty walking or running. (nih.gov)
  • Dynapenia is partly explained by muscle atrophy and is a major risk factor for physical incapacity in the elderly. (earth.com)
  • The most unavoidable cause of pelvic floor muscle weakness is natural atrophy (muscle deterioration) which occurs as a result of ageing. (club-cleo.com)
  • While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. (nih.gov)
  • Symptoms of Bell's palsy include weakness or paralysis on one side of the face, drooping eyelid or eyebrow, difficulty closing the eye, dryness in the mouth and lips, and difficulty speaking. (trendydamsels.com)
  • Symptoms of nerve injury include weakness, paralysis, and loss of sensation in the affected area. (trendydamsels.com)
  • Today I'm talking about the connection between muscle weakness and hyperthyroidism, exploring other causes such as electrolyte imbalances, medications, and infections, how to test for decreased muscle mass, what you can do to address the cause of your symptoms, and more. (savemythyroid.com)
  • These disorders include Parkinson's disease, multiple sclerosis, and traumatic brain injury.SYMPTOMS OF DETRUSOR MUSCLE WEAKNESSSome of the common symptoms of Detrusor muscle weakness or underactive bladder are: Urgency of urination Frequency of urination Hesitation before urine flows Nocturia Urge and/or stress to urinate Incontinence Sensation of incomplete emptying Straining to empty the bladder Frequent infections. (astroie.com)
  • The intensity of the symptoms of the Detrusor muscle weakness may be different for different patients.TREATMENT OF DETRUSOR MUSCLE WEAKNESSThe treatment of Detrusor muscle weakness or underactive bladder mainly involves the use of different methods for easing the symptoms of this condition. (astroie.com)
  • Weakness and fatigue are closely linked and having one often makes the other symptoms worse. (replicadb4.com)
  • Keep in mind that young children may not always verbalize their feeling as weakness and may just stop using or refuse to use an affected limb. (cdc.gov)
  • Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. (bvsalud.org)
  • We now report the genetic findings of a series of Chilean patients presenting with limb -girdle muscle weakness of unknown etiology . (bvsalud.org)
  • Myasthenia gravis is an autoimmune disease that causes muscle weakness. (trendydamsels.com)
  • The muscles affected by myasthenia gravis are typically those that control the eyes and face. (trendydamsels.com)
  • People with ALS experience muscle weakness and wasting, as well as difficulty speaking, swallowing, and breathing. (trendydamsels.com)
  • Even though this presentation is focusing on people with hyperthyroidism, of course people with hypothyroidism can experience muscle weakness. (savemythyroid.com)
  • In that case, I didn't have decreased muscle mass, but I did experience muscle weakness. (savemythyroid.com)
  • The transaminitis suggested myopathy and was consistent with clinical muscle weakness. (mdedge.com)
  • If you notice sudden numbness or weakness in the face, arm, or leg (especially on one side of the body), it could be a sign of a stroke. (trendydamsels.com)
  • Is there a relationship between hip muscle weakness in some muscles and correlating tightness in others? (nfpt.com)
  • By testing the strength of the voluntary muscles (which means the muscles we can move at will, e.g. in our arms and legs), you can find out if the person's nerve function is normal, or has been weakened or paralysed by leprosy. (open.edu)
  • If you have urge incontinence, your pelvic floor muscles may be too weak to hold back a bowel movement due to muscle injury or nerve damage . (nih.gov)
  • Bell's palsy is caused by damage to the 7th cranial nerve, which controls the muscles of the face. (trendydamsels.com)
  • Nerve injury is another possible cause of facial muscle weakness. (trendydamsels.com)
  • Damage to the nerve fibers (demyelination) in the spinal cord and brain that stimulate the muscles can also cause weakness. (replicadb4.com)
  • The muscles are not receiving the nerve impulses they require in order to work effectively - which often results in decreased endurance. (replicadb4.com)
  • When you're pregnant, natural weight gain, and the added weight of your baby put an extra load on your pelvic floor muscles, causing them to fatigue more easily. (club-cleo.com)
  • Skeletal muscle constantly relies on mitochondria for power. (nih.gov)
  • Although well known in many other tissues, the current study is the first to show that mitochondria in skeletal muscle are capable of undergoing fusion as a repair mechanism. (nih.gov)
  • It had been thought that this type of mitochondrial self-repair was unlikely in the packed fibers of the skeletal muscle cells, as mitochondria have little opportunity to interact in the narrow space between the thread-like structures called myofilaments that make up muscle. (nih.gov)
  • By tagging mitochondria in the skeletal tissue of rats with different colors, the researchers were able to observe the process in action and confirm that mitochondrial fusion occurs in muscle cells. (nih.gov)
  • ATF4 seems to change skeletal muscle with age, reducing protein synthesis and overall mass. (lifeboat.com)
  • Skeletal muscle quality relies on the health of the mitochondria. (savemythyroid.com)
  • The intermediate syndrome is a delayed-onset of muscular weakness and paralysis following an episode of acute cholinesterase inhibitor poisoning. (cdc.gov)
  • It can cause weakness or paralysis on one side of the face. (trendydamsels.com)
  • Stroke can cause a wide range of problems, including paralysis, weakness, and vision loss. (trendydamsels.com)
  • ALS can cause weakness and paralysis in the muscles of the face, as well as the rest of the body. (trendydamsels.com)
  • prolonged pushing, forceps and ventouse (suction) deliveries can all cause muscle damage and it is quite usual for the pelvic floor muscle to be stretched, torn or cut. (club-cleo.com)
  • The Foundation for the National Institutes of Health (FNIH) Sarcopenia Project recently developed sex-specific criteria to diagnose different degrees of muscle strength (i.e., weak, intermediate, and normal) in older adults based on maximum hand grip strength. (cdc.gov)
  • Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. (nih.gov)
  • When any of the 21 hip muscles are weak, it can cause the others to become over-worked and tight as a protection against forces being applied to the joint. (nfpt.com)
  • Some women are born with weak pelvic muscles, but pelvic floor muscle weakness is most commonly caused by having children. (club-cleo.com)
  • To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD). (nih.gov)
  • Patients with weakness in the neck and muscles of the shoulder girdle that control this movement might not be able to shrug their shoulder on the affected side and have difficulty holding up the head. (cdc.gov)
  • Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). (nih.gov)
  • In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). (nih.gov)
  • A constant feature, and one of the earliest signs, was marked weakness of the neck flexors and inability of patients to raise their heads off their pillows. (cdc.gov)
  • We conclude that muscle weakness in older adults has distinct mechanisms from continuous strength, including several pathways considered to be hallmarks of ageing. (eur.nl)
  • However, we went a step further and grouped older adults by their level of muscle strength. (ptproductsonline.com)
  • Our results have major implications for clinicians and scientists who are developing interventions to enhance muscle strength in older adults. (ptproductsonline.com)
  • Some people quickly regain their energy after being treated for rhabdomyolysis, while others can have fatigue and muscle aches for several months after treatment. (catie.ca)
  • Physical therapy is an important part of fighting fatigue and muscle weakness. (physiqure.com)
  • Your doctor will work to determine the cause of your fatigue and muscle weakness and treat it accordingly. (physiqure.com)
  • It's necessary to explain to people that they risk losing muscle strength if they don't get enough vitamin D. They need to expose themselves to the sun, eat food rich in vitamin D or take a supplement, and do resistance training exercises to maintain muscle strength," Alexandre concluded. (earth.com)
  • Regular stimulation and effective pelvic floor exercises will help to strengthen these essential muscles and increased muscle tone and vitality can bring additional benefits. (club-cleo.com)
  • Even though you need to resolve the hyperthyroidism, if you have that decrease in muscle mass, you will probably need to do things to increase the muscle mass, whether it's weight-bearing exercises and/or increasing your protein intake. (savemythyroid.com)
  • These pages are better than the previous site I mentioned because there are direct links to the muscle descriptions and the exact exercises and stretches that address the specific weaknesses and inflexibities. (stretchwithme.com)
  • In a genome-wide association study meta-analysis of 256,523 Europeans aged 60 years and over from 22 cohorts we identify 15 loci associated with muscle weakness (European Working Group on Sarcopenia in Older People definition: n = 48,596 cases, 18.9% of total), including 12 loci not implicated in previous analyses of continuous measures of grip strength. (eur.nl)
  • Sarcopenia is the age-related loss of muscle mass along with strength and quality. (savemythyroid.com)
  • The finding gives insight into why chronic heavy drinking often saps muscle strength and it could also lead to new targets for medication development. (nih.gov)
  • The finding gives insight into why chronic heavy drinking often saps muscle strength and it could also lead to new targets for medication development," said Dr. George Koob, director of the National Institute on Alcohol Abuse and Alcoholism, the NIH institute that funded the study. (nih.gov)
  • When elderly mice were fed either of these compounds, muscle mass was increased by 10% and muscle strength by 30% - essentially restoring their muscles to a youthful state. (lifeboat.com)
  • Now, according to a recent study led by the Federal University of São Carlos (UFSCar) in Brazil and University College London (UCL) in England, vitamin D supplementation reduces the risk of dynapenia - an age-associated loss of muscle strength - in older people by 78 percent. (earth.com)
  • Endocrine disorders such as vitamin D deficiency or insufficiency can lead to loss of bone mineral density as well as a reduction in muscle mass, strength and function. (earth.com)
  • Strong (S): the muscle strength is normal. (open.edu)
  • Low muscle strength is an important heritable indicator of poor health linked to morbidity and mortality in older people. (eur.nl)
  • They conclude in the release that while several age-related factors contribute to age-related loss of muscle strength, degradation of the motor cortex may also be partially responsible. (ptproductsonline.com)
  • Weakness is reduced strength in one or more muscles. (medlineplus.gov)
  • We will also provide tips on how to improve your facial muscle strength. (trendydamsels.com)
  • Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that affects the nerves that control muscle movement. (trendydamsels.com)
  • Patients with weakness on an affected side of the shoulder girdle could have difficulty raising their arm above the head. (cdc.gov)
  • Patients with weakness in both hips might also have trunk weakness and difficulty standing unassisted or unable to attempt this movement. (cdc.gov)
  • n\nA characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. (nih.gov)
  • There have been rare reports of cases of raltegravir-associated rhabdomyolysis-the breakdown of muscle tissue leading to muscle weakness. (catie.ca)
  • These findings offer evidence that the risk of muscle weakness is heightened by both vitamin D deficiency and insufficiency. (earth.com)
  • n\nThe combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. (nih.gov)
  • They were bathed in sweat and using all their accessory respiratory muscles. (cdc.gov)
  • The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders. (nih.gov)
  • Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. (bvsalud.org)
  • The pelvic floor muscle (Pubococcygeal) is a large group of muscles suspended across the pelvis like a hammock. (club-cleo.com)
  • Complications include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained muscle contractions that case twisting and repetitive movements or abnormal postures). (nih.gov)
  • Patients may have weakness both in the trunk and hips and might be unable to stand up unassisted or perform this movement. (cdc.gov)
  • Actually, it's a hormone and its many roles include helping to repair muscles and releasing calcium for muscle contraction kinetics. (earth.com)
  • Movement builds up the proteins needed for muscle contraction. (frap.org)
  • Muscle weakness is commonly due to lack of exercise, ageing, muscle injury or pregnancy. (fatiguetalk.com)
  • A healthy diet and regular exercise can alleviate muscle fatigue. (physiqure.com)
  • Weakness is more noticeable when it is in one area. (medlineplus.gov)
  • After I was diagnosed with Graves' disease, I experienced a noticeable loss of muscle mass associated with hyperthyroidism. (savemythyroid.com)
  • Different combinations of muscles enervated by cranial nerves III-VII and X were involved. (cdc.gov)
  • When participants with osteoporosis and those taking vitamin D were excluded from the analysis, the researchers found that the risk of developing muscle weakness after four years was 78 percent higher for individuals with vitamin D deficiency at the beginning of the study, and 77 percent higher for those with vitamin D insufficiency (30-50 nmol/L). (earth.com)
  • In research conducted with rats, scientists found evidence that chronic heavy alcohol use affects a gene involved in mitochondrial repair and muscle regeneration. (nih.gov)
  • Bell's palsy is a condition that affects the facial muscles. (trendydamsels.com)
  • If the stroke affects the muscles of the face, it can lead to facial muscle weakness. (trendydamsels.com)
  • It was therefore expected to cause muscle alterations of some kind. (earth.com)
  • The proteins in the muscles link up so they can cause contractions. (frap.org)
  • Muscle weakness is linked to impaired mobility and mortality in older persons. (cdc.gov)
  • Like every other muscle in the body, the pelvic floor muscle gets stronger when it's exercised. (club-cleo.com)
  • Weakness may be all over the body or in only one area. (medlineplus.gov)
  • However, the disease can also affect other muscles in the body. (trendydamsels.com)
  • Because of the confusion, severity of muscle weakness, and plausibility of early encephalopathy with Lyme disease, the patient was admitted to the hospital for further work-up. (mdedge.com)
  • Muscle weakness from long-term alcoholism may stem from an inability of mitochondria, the powerhouses of cells, to self-repair, according to a study funded by the National Institutes of Health. (nih.gov)
  • If giving birth doesn't create an unmanageable problem, then oestrogen loss prior to and during menopause can also cause pelvic floor muscle weakness or exaggerate an underlying problem. (club-cleo.com)
  • As far as my experience with decreased muscle mass, when I dealt with Graves' I definitely experienced a loss of muscle mass. (savemythyroid.com)
  • Some people with hyperthyroidism experience both loss of muscle mass and muscle weakness. (savemythyroid.com)
  • The problem most people have is that they don't have the same objectivity about their weaknesses as Arnold. (breakingmuscle.com)
  • Many people are adversely affected by age-related muscle weakness," Heritage College Executive Dean Kenneth H. Johnson, DO, says in the release. (ptproductsonline.com)
  • Many people don't know that facial muscles are responsible for a wide range of functions, from smiling and talking to eating and drinking. (trendydamsels.com)
  • In some cases, people with ALS may only experience weakness in the muscles of the face. (trendydamsels.com)
  • Patients with weakness in the hip muscles might not be able to lift the leg on the affected side, possibly not clearing the toe off the ground. (cdc.gov)
  • Patients with weakness in the trunk might lean on the stronger leg to help themselves to lower down, use their arms for additional support, and widen their stance to assist with balance. (cdc.gov)
  • In some cases, surgery may be required.Herbal products offered by Planet Ayurveda herbal manufacturing company are very beneficial for the patients suffering from Detrusor muscle weakness. (astroie.com)