Hereditary Sensory and Motor Neuropathy: 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)Motor Neuron Disease: 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)Charcot-Marie-Tooth Disease: 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)Polyneuropathies: 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.Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Immunoglobulins, Intravenous: Immunoglobulin preparations used in intravenous infusion, containing primarily IMMUNOGLOBULIN G. They are used to treat a variety of diseases associated with decreased or abnormal immunoglobulin levels including pediatric AIDS; primary HYPERGAMMAGLOBULINEMIA; SCID; CYTOMEGALOVIRUS infections in transplant recipients, LYMPHOCYTIC LEUKEMIA, CHRONIC; Kawasaki syndrome, infection in neonates, and IDIOPATHIC THROMBOCYTOPENIC PURPURA.Peripheral Nervous System Diseases: 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.Diabetic Neuropathies: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)Motor Neurons: Neurons which activate MUSCLE CELLS.G(M1) Ganglioside: A specific monosialoganglioside that accumulates abnormally within the nervous system due to a deficiency of GM1-b-galactosidase, resulting in GM1 gangliosidosis.Autoimmune Diseases of the Nervous System: Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME).Sural Nerve: A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.Polyradiculoneuropathy: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.Creatine Kinase, BB Form: A form of creatine kinase found in the BRAIN.Tocainide: An antiarrhythmic agent which exerts a potential- and frequency-dependent block of SODIUM CHANNELS.Neuromuscular Diseases: 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.Peripheral Nerves: 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.Pedigree: 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.Demyelinating Diseases: Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.Muscle Weakness: 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)GTP-Binding Protein gamma Subunits: Heterotrimeric GTP-binding protein subunits that tightly associate with GTP-BINDING PROTEIN BETA SUBUNITS. A dimer of beta and gamma subunits is formed when the GTP-BINDING PROTEIN ALPHA SUBUNIT dissociates from the GTP-binding protein heterotrimeric complex. The beta-gamma dimer can play an important role in signal transduction by interacting with a variety of second messengers.Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes.Evoked Potentials, Motor: The electrical response evoked in a muscle or motor nerve by electrical or magnetic stimulation. Common methods of stimulation are by transcranial electrical and TRANSCRANIAL MAGNETIC STIMULATION. It is often used for monitoring during neurosurgery.Motor Cortex: Area of the FRONTAL LOBE concerned with primary motor control located in the dorsal PRECENTRAL GYRUS immediately anterior to the central sulcus. It is comprised of three areas: the primary motor cortex located on the anterior paracentral lobule on the medial surface of the brain; the premotor cortex located anterior to the primary motor cortex; and the supplementary motor area located on the midline surface of the hemisphere anterior to the primary motor cortex.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Hereditary Sensory and Autonomic Neuropathies: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)Optic Neuropathy, Ischemic: Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)Molecular Motor Proteins: Proteins that are involved in or cause CELL MOVEMENT such as the rotary structures (flagellar motor) or the structures whose movement is directed along cytoskeletal filaments (MYOSIN; KINESIN; and DYNEIN motor families).Ulnar Neuropathies: Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)Treatment Outcome: 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.Autonomic Nervous System Diseases: Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.Alcoholic Neuropathy: A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)Motor Skills Disorders: Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V)Femoral Neuropathy: Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh.Optic Atrophy, Hereditary, Leber: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))Median Neuropathy: Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME).Optic Nerve Diseases: Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.Movement: The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.Amyloid Neuropathies: Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)Sciatic Nerve: A nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity. The sciatic nerve, which is the main continuation of the sacral plexus, is the largest nerve in the body. It has two major branches, the TIBIAL NERVE and the PERONEAL NERVE.Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.Optic Atrophies, Hereditary: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).Electrodiagnosis: Diagnosis of disease states by recording the spontaneous electrical activity of tissues or organs or by the response to stimulation of electrically excitable tissue.Cranial Nerve Diseases: Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.Ulnar Nerve Compression Syndromes: Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)Nervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Psychomotor Performance: The coordination of a sensory or ideational (cognitive) process and a motor activity.Ulnar Nerve: A major nerve of the upper extremity. In humans, the fibers of the ulnar nerve originate in the lower cervical and upper thoracic spinal cord (usually C7 to T1), travel via the medial cord of the brachial plexus, and supply sensory and motor innervation to parts of the hand and forearm.Sensation Disorders: Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).Diagnostic Techniques, Neurological: Methods and procedures for the diagnosis of diseases of the nervous system, central and peripheral, or demonstration of neurologic function or dysfunction.Peroneal Neuropathies: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)Paresthesia: Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Nerve Fibers: Slender processes of NEURONS, including the AXONS and their glial envelopes (MYELIN SHEATH). Nerve fibers conduct nerve impulses to and from the CENTRAL NERVOUS SYSTEM.Kinesin: A microtubule-associated mechanical adenosine triphosphatase, that uses the energy of ATP hydrolysis to move organelles along microtubules toward the plus end of the microtubule. The protein is found in squid axoplasm, optic lobes, and in bovine brain. Bovine kinesin is a heterotetramer composed of two heavy (120 kDa) and two light (62 kDa) chains. EC 3.6.1.-.Sensation: The process in which specialized SENSORY RECEPTOR CELLS transduce peripheral stimuli (physical or chemical) into NERVE IMPULSES which are then transmitted to the various sensory centers in the CENTRAL NERVOUS SYSTEM.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Hand: The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.Nerve Compression Syndromes: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.Movement Disorders: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.Peroneal Nerve: The lateral of the two terminal branches of the sciatic nerve. The peroneal (or fibular) nerve provides motor and sensory innervation to parts of the leg and foot.Median Nerve: A major nerve of the upper extremity. In humans, the fibers of the median nerve originate in the lower cervical and upper thoracic spinal cord (usually C6 to T1), travel via the brachial plexus, and supply sensory and motor innervation to parts of the forearm and hand.Hearing Loss, Central: Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.Tibial Nerve: The medial terminal branch of the sciatic nerve. The tibial nerve fibers originate in lumbar and sacral spinal segments (L4 to S2). They supply motor and sensory innervation to parts of the calf and foot.Myelin P0 Protein: A protein that accounts for more than half of the peripheral nervous system myelin protein. The extracellular domain of this protein is believed to engage in adhesive interactions and thus hold the myelin membrane compact. It can behave as a homophilic adhesion molecule through interactions with its extracellular domains. (From J Cell Biol 1994;126(4):1089-97)Sciatic Neuropathy: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)Guillain-Barre Syndrome: 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)Peripheral Nervous System: The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and sympathetic subdivisions. The somatic nervous system includes the cranial and spinal nerves and their ganglia and the peripheral sensory receptors.Paraneoplastic Polyneuropathy: A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)Reaction Time: The time from the onset of a stimulus until a response is observed.Amyloid Neuropathies, Familial: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.Neuralgia: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.Tibial Neuropathy: Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)Muscle, Skeletal: 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.Electric Stimulation: Use of electric potential or currents to elicit biological responses.
Also known as Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA ... Various mutations of RAB7A are associated with Hereditary sensory neuropathy type 1C (HSN IC), also known as Charcot-Marie- ... Auer-Grumbach M (March 2008). "Hereditary sensory neuropathy type I". Orphanet Journal of Rare Diseases. 3 (7): 7. doi:10.1186/ ... GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2. ...
"The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN ... 1994). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)". ... NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1 GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2 ... 1994). "New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1". Biochem. Mol. Biol. Int. 31 (1 ...
Also known as Hereditary Motor and Sensory Neuropathy (HMSN), it is genetically heterogeneous and usually presents in the first ... Pes cavus is sometimes-but not always-connected through Hereditary Motor and Sensory Neuropathy Type 1 (Charcot-Marie-Tooth ... Pes cavus is also evident in people without neuropathy or other neurological deficit. In the absence of neurological, ... Pes cavus may be hereditary or acquired, and the underlying cause may be neurological, orthopedic, or neuromuscular. ...
... disease or Hereditary Motor and Sensory Neuropathy (HMSN). Vincent Timmerman obtained a PhD at the University of Antwerp in ... classified as hereditary motor and/or sensory neuropathies and the most common inherited peripheral neuropathy is Charcot-Marie ... Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A, NAT GENET 36, 449-451, 2004 ...
... denervation along with sensory impairment due to sensory denervation are known as hereditary motor and sensory neuropathies ( ... HMSN). In all spinal muscular atrophies, the primary feature is muscle weakness accompanied by atrophy of muscle. This is the ... Patients also benefit greatly from the use of assistive technology.[citation needed] Distal hereditary motor neuropathies Motor ... By contrast, hereditary disorders that cause both weakness due to motor ...
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all ... Hereditary motor and sensory neuropathy with proximal dominance Charcot-Marie-Tooth disease Hereditary motor neuropathies ... 2013). Hereditary Motor Sensory Neuropathy. http://www.aanem.org/Education/Patient-Resources/Disorders/Hereditary-Motor-Sensory ... Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies at eMedicine Vance, Jeffery M. (1991). "Hereditary ...
HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot-Marie-Tooth ... Hereditary motor and sensory neuropathy "Hereditary Neuropathy with Liability to Pressure Palsies". April 2007. RESERVED, ... Hereditary neuropathy with liability to pressure palsies". www.orpha.net. Retrieved 18 August 2016. "Hereditary neuropathy with ... Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy, a disorder of the nerves. HNPP is a ...
HSAN I must be distinguished from hereditary motor and sensory neuropathy (HMSN) and other types of hereditary sensory and ... Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of ... Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia) ... Hereditary sensory and autonomic neuropathy type IV (Congenital insensitivity to pain with anhidrosis) Hereditary motor and ...
... (HMSN-P) is an autosomal dominant neurodegenerative disorder ... Campellone, J. V. (2013). "Hereditary Motor and Sensory Neuropathy with Proximal Predominance (HMSN-P)". Journal of Clinical ... Hereditary motor and sensory neuropathy Ishiura, H.; Sako, W.; Yoshida, M.; Kawarai, T.; Tanabe, O.; Goto, J.; Takahashi, Y.; ... "Proximal Dominant Hereditary Motor and Sensory Neuropathy with Proximal Dominance Association with Mutation in the TRK-Fused ...
... while motor neurons has reduced ability to transmit signals. Genes related to Hereditary sensory and autonomic neuropathy Type ... This type includes a popular disease Charcot-Marie-Tooth type 2B syndrome (HMSN 2B). that is also named as HSAN sub-type 1C. ... Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any ... NCBI/UW entry on Hereditary Sensory and Autonomic Neuropathy IV GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy ...
GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Race JE, Makhlouf FN, ... 2007). "Distal truncation of KCC3 in non-French Canadian HMSN/ACC families". Neurology. 69 (13): 1350-5. doi:10.1212/01.wnl. ... 2002). "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum ... Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. Solute carrier family ...
November 1993). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy ... hereditary motor and sensory polyneuropathy type III and Charcot-Marie-Tooth disease type 3), is a hereditary neurological ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. *Hereditary spastic paraplegia ... Dejerine-Sottas neuropathy is caused by a genetic defect either in the proteins found in axons or the proteins found in myelin. ...
The specific type of symptoms may be either motor, sensory, or mixed motor/sensory type symptoms. Motor symptoms consistent of ... Hereditary spastic paraplegia. *Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. * ... In cubital tunnel syndrome (a type of proximal impingement), sensory and motor symptoms tend to occur in a certain sequence. ...
This release may be caused by inappropriate crosstalk between sensory and motor fibers at the affected site.[8] CRPS is not a ... Hereditary spastic paraplegia. *Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. * ... "Graded Motor Imagery". Graded Motor Imagery. Retrieved 2013-12-23.. *^ O'Connell, NE; Wand, BM; Gibson, W; Carr, DB; Birklein, ...
Acute motor and sensory axonal neuropathy (AMSAN) Severe muscle weakness similar to AMAN but with sensory loss - Axonal ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. *Hereditary spastic paraplegia ... Acute motor axonal neuropathy (AMAN) Isolated muscle weakness without sensory symptoms in less than 10%; cranial nerve ... Whether isolated acute sensory loss can be regarded as a form of Guillain-Barré syndrome is a matter of dispute; this is a rare ...
Both sensory and motor nerves are tested at different locations. Electrical impulses are sent through the nerve and the speed ... Hereditary spastic paraplegia. *Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. * ... show signs of distal limb neuropathy. The posterior tibial nerve serves victim to peripheral neuropathy and often show signs of ...
... (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. *Hereditary spastic paraplegia ... Charcot-Marie-Tooth Hereditary Neuropathy OverviewCharcot-Marie-Tooth Neuropathy Type 1Charcot-Marie-Tooth Neuropathy X Type 5 ... Charcot-Marie-Tooth Neuropathy X Type 1GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy Type 2D, Distal Spinal ...
G60) Hereditary and idiopathic neuropathy *(G60.0) Hereditary motor and sensory neuropathy *Charcot-Marie-Tooth disease ... HMSN. *Charcot-Marie-Tooth disease. *Dejerine-Sottas disease. *Refsum's disease. *Hereditary spastic paraplegia ... G11) Hereditary ataxia *(G11.0) Congenital nonprogressive ataxia. *(G11.1) Early-onset cerebellar ataxia *Early-onset ... G13.0) Paraneoplastic neuromyopathy and neuropathy. *(G13.1) Other systemic atrophy primarily affecting central nervous system ...
To develop specific diagnostic ultrasound (US) models for hereditary motor and sensory neuropathies (HMSN) in patients with ... applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies ( ... applicable nerve ultrasound models for the diagnosis of axonal and demyelinating hereditary motor and sensory neuropathies ( ... Diagnostic ultrasound models for HMSN in patients with demyelinating or axonal neuropathies show high accuracy and can ...
HMSN): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Hereditary and idiopathic neuropathy G60.0 Hereditary motor and sensory neuropathy Inclusion term(s): Charcot-Marie-Tooth ... Charcot-Marie-Tooth disease Déjérine-Sottas disease Hereditary motor and sensory neuropathy, types I-IV Hypertrophic neuropathy ... Applicable To Charcot-Marie-Tooth disease Déjérine-Sottas disease Hereditary motor and sensory neuropathy, types I-IV ...
Ayurvedic herbal cure for Hereditary Motor and Sensory Neuropathy disease includes the use of herbal medicines to cure the ... Hereditary motor and sensory neuropathy (HMSN) is a group of inherited conditions that damage the peripheral nerves. Its also ... Neuropathy can either be sensory neuropathy or motor neuropathy. If disease occurs in both the systems, it is known as ... Labels: Ayurvedic cure, Ayurvedic treatment, Causes, Herbal Cure, Herbal Remedies, Hereditary Motor and Sensory Neuropathy, ...
hereditary motor and sensory neuropathy Type IV. *heredopathia atactica polyneuritiformis. *HMSN IV ...
HYPERTROPHIC SURAL NERVES IN HEREDITARY MOTOR SENSORY NEUROPATHY (HMSN) TYPE 1. Oberlander, David; Pascuzzi, Robert M. ... ASSESSMENT OF SINGLE MOTOR UNIT DISCHARGE PATTERNS USING SURFACE EMG TECHNIQUE. Shahani, Bhagwan T.; Fang, Jianjun; Yan, Kun; ... STUDY OF SINGLE MOTOR UNIT DISCHARGE PATTERNS USING 1/F PROCESS MODEL. Fang, Jianjun; Shahani, Bhagwan T.; Bruyninckx, Frances ... CURRENT PERCEPTION THRESHOLD (CPT) QUANTITATIVE SENSORY TESTING IN PATIENTS WITH SYMPTOMATIC AND MRI-DOCUMENTED DISC ...
... hereditary motor and sensory neuropathy IIA1; HMSN2A1; HMSN IIA1 ... hereditary motor and sensory neuropathy IIA1; HMSN2A1; HMSN ... Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; ... Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; ...
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) Hereditary Motor and Sensory Neuropathy ... Children with HMSN/ACC experience delays in gross and fine motor development. Young children will be less prone to use their ... The carrier status of the HMSN/ACC gene can be confirmed through genetic testing. If you have a family history of HMSN/ACC, you ... CMT is an inherited peripheral neuropathy - a person must have a peripheral neuropathy based on a nerve conduction test in ...
... duplication and point mutations in 51 peripheral neuropathy genes, and a genetic cause was identified in 37 CMT families (46 ... The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the ,i,PMP22,/i, ... Neuromuscular Disease Center, W.U. Hereditary Motor Sensory Neuropathies (HMSN; CMT), http://neuromuscular.wustl.edu/time/hmsn. ... Charcot-Marie-Tooth (CMT) disease is a hereditary peripheral motor and sensory neuropathy. The most common single cause is a ...
Hereditary sensory and motor neuropathy type 4; HMSN 4; Disorder of cornification 11 (phytanic acid type); Hereditary sensory ... and motor neuropathy type 4; HMSN 4; Heredopathia atactica polyneuritiformis; Doc 11 (phytanic acid type); Hypertrophic ...
... hereditary motor and sensory neuropathy type 2B (HMSN 2B)). However, the presence of mutilating injuries of the feet may ... sensory neuropathy. Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder, typically ... Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet2001;69: ... Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001;27:261-2. ...
17 In some patients with hereditary motor and sensory neuropathy (HMSN), worsening neuropathy has improved with immunotherapy. ... Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc1982;57:239-46. ... HBPN, hereditary brachial plexus neuropathy. *HMSN, hereditary motor and sensory neuropathy. *HNPP, hereditary neuropathy with ... HBPN, hereditary brachial plexus neuropathy. *HMSN, hereditary motor and sensory neuropathy. *HNPP, hereditary neuropathy with ...
Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). 415. All. 10 Years and older (Child, Adult, ... Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). *Charcot ... neuropathy OR polyneuropathy OR AIDS dementia complex OR AIDS neuropathy OR HIV neuropathy OR HIV-1 cognitive and motor complex ... neuropathy OR polyneuropathy OR AIDS dementia complex OR AIDS neuropathy OR HIV neuropathy OR HIV-1 cognitive and motor complex ...
Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). 415. All. 10 Years and older (Child, Adult, ... L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1. *Hereditary Sensory and Autonomic Neuropathy Type I ... Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS). *Charcot ... Also searched for Nerve Compression Syndrome, Disorders, Hereditary Sensory and Motor Neuropathy and more. See Search Details ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Hereditary motor and sensory neuropathy ... Hereditary motor and sensory neuropathy 5; HMSN 5; CMT with pyramidal features; Hereditary motor and sensory neuropathy 5; HMSN ... Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly ... Hereditary motor and sensory neuropathy type 5 Title Other Names:. CMT with pyramidal features; ...
CMT is characterized by inherited neuropathies without known metabolic derangements. ... Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3 ... Hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil. 1995 Sep-Oct. 74 (5 Suppl):S140-9. [Medline]. ... Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain. 1986 Oct. 109 ( Pt 5):897-914. [ ...
CMT is characterized by inherited neuropathies without known metabolic derangements. ... Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3 ... These disorders are also known as hereditary motor and sensory neuropathies (HMSNs); they are distinct from hereditary sensory ... Dejerine-Sottas syndrome (DSS) or hereditary motor and sensory neuropathy (HMSN) 3 ...
Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) is an autosomal dominant neurodegenerative disorder ... Campellone, J. V. (2013). "Hereditary Motor and Sensory Neuropathy with Proximal Predominance (HMSN-P)". Journal of Clinical ... Hereditary motor and sensory neuropathy Ishiura, H.; Sako, W.; Yoshida, M.; Kawarai, T.; Tanabe, O.; Goto, J.; Takahashi, Y.; ... "Proximal Dominant Hereditary Motor and Sensory Neuropathy with Proximal Dominance Association with Mutation in the TRK-Fused ...
Neuromuscular Diseases The motor unit Causes of neuromuscular dysfunction The neuropathies: symptoms and clinical findings ... hereditary motor and sensory neuropathy (HMSN). This name more accurately describes the syndrome because it is hereditary, can ... The motor unit. The motor unit has four components: a motor neuron in the brain or spinal cord, its axon and related axons that ... The motor nerves. KEY TERMS. Acetylcholine (ACh)- A white crystalline chemical compound (C7H17NO3) that transmits nerve ...
Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61 ... Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have ... Hereditary Spastic Paraplegia: A group of inherited diseases that share similar phenotypes but are genetically diverse. ... Hereditary; HMSN Type V; HMSN V (Hereditary Motor and Sensory Neuropathy Type V); Hereditary Autosomal Dominant Spastic ...
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC; Online Mendelian Inheritance ... causes hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental ... 2003) Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol 54:9-18. ... Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy ...
Hereditary Motor Sensory Neuropathy). This is a progressive condition, which damages the nerves in the body starting with the ... I have a genetic degenerative disease called HMSN ( ... I have a genetic degenerative disease called HMSN (Hereditary ... Motor Sensory Neuropathy). This is a progressive condition, which damages the nerves in the body starting with the hands and ...
Hereditary Motor Sensory Neuropathy (HMSN) HMSN is a genetic disease that affects the peripheral nerves causing weakness and ... Peripheral Neuropathy. Peripheral neuropathy is pain and damage to the nerves that connect your brain and spinal cord to the ... Motor Neuron Disease Also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrigs disease, motor neuron disease is a rare ... Symptoms of peripheral neuropathy often start slowly and get worse over time, and may include numbness, tingling, sensitivity ...
HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated ... HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN ... HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. ... A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. ...
Supplementary test information for Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies such as test interpretation ... hereditary motor and sensory neuropathy (HMSN), hereditary sensory neuropathies (HSN), hereditary sensory and autonomic ... hereditary motor neuropathy; DI-CMT, dominant-intermediate CMT; HMSN, hereditary motor and sensory neuropathy; HNPP, hereditary ... Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Dupré N, Howard HC, Rouleau GA. Hereditary Motor ...
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Multiple U.S ... Median Neuropathy, Ulnar Neuropathy, Peroneal Neuropathy, Radial Neuropathy, Sciatic Neuropathy, Tibial Neuropathy ... Charcot Marie Tooth Disease (CMT), Hereditary Sensory and Motor Neuropathy, Nerve Compression Syndromes, Tooth Diseases, ... HIV Infections, Neuropathy Impact of the Metabolic Syndrome on the Incidence of Neuropathy in Obese Subjects Michigan Active, ...
  • Ten patients had the motor variant of CIDP without conduction block and three had elevated titers. (neurology.org)
  • The predominant mutation found in HMSN/ACC patients consists of a G deletion at the conserved GT splice donor site of exon 18, leading to both aberrant splicing and creation of a novel stop codon at position 813 of the protein (Thr813X), thus prematurely removing most of the C-terminal portion of the protein (338 aa). (jneurosci.org)
  • When bred to mice that express Cre recombinase, the resulting offspring will have exon 18 deleted in the cre-expressing tissues resulting in a C terminal truncation of the protein mimicking the human HMSN/ACC mutation. (jax.org)
  • This Affectis collaboration represents an exciting new opportunity for the CMTA to both de-risk and accelerate development of a novel drug class for the treatment of CMT1A, the most prevalent of the genetic neuropathies. (marketwired.com)
  • I think it's a pity that they did not use some of the other terms for this group of genetic neuropathies. (wordpress.com)
  • A comparison of perineurial and vascular basal laminal changes in diabetic neuropathy. (nih.gov)
  • No significant correlation was found either for the diabetic neuropathy or HMSN cases or for the organ donor controls. (nih.gov)
  • As had been observed previously, the basal laminal zone around the endoneurial capillaries was of increased thickness both in the diabetic neuropathy and the HMSN cases and, although it was greater for the diabetic neuropathy patients, the difference was not statistically significant. (nih.gov)
  • Taken together, these findings indicate that the thickening of the basal lamina of the perineurial cells is a more characteristic feature of diabetic neuropathy than is thickening of the basal laminal zone around the endoneurial capillaries. (nih.gov)
  • With initiation of the CMT1A studies we see the unique chance to evaluate both the role of P2X7 as well as the potency of the Affectis' compounds in the Charcot-Marie-Tooth 1A disorder, a demyelinating neuropathy with unmet medical need. (marketwired.com)