Bulbo spinal atrophy x linked. Medical search

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.

A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.

Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).

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.

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)

Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.

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)

Introduction of therapeutic agents into the spinal region using a needle and syringe.

Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.

The 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment. The spinal nerve plexuses and the spinal roots are also included.

A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)

Procedure in which an anesthetic is injected directly into the spinal cord.

Paired bundles of NERVE FIBERS entering and leaving the SPINAL CORD at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots are efferent, comprising the axons of spinal motor and PREGANGLIONIC AUTONOMIC FIBERS.

Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.

The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.

Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.

Narrowing of the spinal canal.

Operative immobilization or ankylosis of two or more vertebrae by fusion of the vertebral bodies with a short bone graft or often with diskectomy or laminectomy. (From Blauvelt & Nelson, A Manual of Orthopaedic Terminology, 5th ed, p236; Dorland, 28th ed)

A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)

Injuries involving the vertebral column.

Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.

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.

Neurons which activate MUSCLE CELLS.

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.

Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain.

Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue.

A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.

A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.

Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.

Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).

A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.

The spinal or vertebral column.

A group of twelve VERTEBRAE connected to the ribs that support the upper trunk region.

Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs.

A surgical procedure that entails removing all (laminectomy) or part (laminotomy) of selected vertebral lamina to relieve pressure on the SPINAL CORD and/or SPINAL NERVE ROOTS. Vertebral lamina is the thin flattened posterior wall of vertebral arch that forms the vertebral foramen through which pass the spinal cord and nerve roots.

Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).

The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.

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.

A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY.

Neurons in the SPINAL CORD DORSAL HORN whose cell bodies and processes are confined entirely to the CENTRAL NERVOUS SYSTEM. They receive collateral or direct terminations of dorsal root fibers. They send their axons either directly to ANTERIOR HORN CELLS or to the WHITE MATTER ascending and descending longitudinal fibers.

Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.

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.

Region of the back including the LUMBAR VERTEBRAE, SACRUM, and nearby structures.

MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.

VERTEBRAE in the region of the lower BACK below the THORACIC VERTEBRAE and above the SACRAL VERTEBRAE.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

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.

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

Broken bones in the vertebral column.

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.

Repair of the damaged neuron function after SPINAL CORD INJURY or SPINAL CORD DISEASES.

Technique for limiting use, activity, or movement by immobilizing or restraining animal by suspending from hindlimbs or tails. This immobilization is used to simulate some effects of reduced gravity and study weightlessness physiology.

Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.

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.

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.

Nucleus of the spinal tract of the trigeminal nerve. It is divided cytoarchitectonically into three parts: oralis, caudalis (TRIGEMINAL CAUDAL NUCLEUS), and interpolaris.

An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve.

Elements of limited time intervals, contributing to particular results or situations.

Movement or the ability to move from one place or another. It can refer to humans, vertebrate or invertebrate animals, and microorganisms.

A partial or complete return to the normal or proper physiologic activity of an organ or part following disease or trauma.

X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space.

Adjustment and manipulation of the vertebral column.

Recording of the changes in electric potential of muscle by means of surface or needle electrodes.

The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.

GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis.

Renewal or physiological repair of damaged nerve tissue.

Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.

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)

Space between the dura mater and the walls of the vertebral canal.

Scales, questionnaires, tests, and other methods used to assess pain severity and duration in patients or experimental animals to aid in diagnosis, therapy, and physiological studies.

A subset of ubiquitin protein ligases that are formed by the association of a SKP DOMAIN PROTEIN, a CULLIN DOMAIN PROTEIN and a F-BOX DOMAIN PROTEIN.

Any operation on the spinal cord. (Stedman, 26th ed)

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)

Tapping fluid from the subarachnoid space in the lumbar region, usually between the third and fourth lumbar vertebrae.

Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction.

Use of electric potential or currents to elicit biological responses.

An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)

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).

Peripheral AFFERENT NEURONS which are sensitive to injuries or pain, usually caused by extreme thermal exposures, mechanical forces, or other noxious stimuli. Their cell bodies reside in the DORSAL ROOT GANGLIA. Their peripheral terminals (NERVE ENDINGS) innervate target tissues and transduce noxious stimuli via axons to the CENTRAL NERVOUS SYSTEM.

Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)

An involuntary movement or exercise of function in a part, excited in response to a stimulus applied to the periphery and transmitted to the brain or spinal cord.

Nerve structures through which impulses are conducted from a peripheral part toward a nerve center.

Application of electric current to the spine for treatment of a variety of conditions involving innervation from the spinal cord.

A surgical operation for the relief of pressure in a body compartment or on a body part. (From Dorland, 28th ed)

The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)

A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)

The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA.

The measurement of an organ in volume, mass, or heaviness.

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Neurons which conduct NERVE IMPULSES to the CENTRAL NERVOUS SYSTEM.

Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)

Act of eliciting a response from a person or organism through physical contact.

Subdural hematoma of the SPINAL CANAL.

Diseases of the uvea.

Application of electric current in treatment without the generation of perceptible heat. It includes electric stimulation of nerves or muscles, passage of current into the body, or use of interrupted current of low intensity to raise the threshold of the skin to pain.

The physical activity of a human or an animal as a behavioral phenomenon.

Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.

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.

Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS.

An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.

Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.

A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.

A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)

The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.

The restriction of the MOVEMENT of whole or part of the body by physical means (RESTRAINT, PHYSICAL) or chemically by ANALGESIA, or the use of TRANQUILIZING AGENTS or NEUROMUSCULAR NONDEPOLARIZING AGENTS. It includes experimental protocols used to evaluate the physiologic effects of immobility.

The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.

The resection or removal of the innervation of a muscle or muscle tissue.

A protein that has been shown to function as a calcium-regulated transcription factor as well as a substrate for depolarization-activated CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES. This protein functions to integrate both calcium and cAMP signals.

Fibers that arise from cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord. Many authorities say the pyramidal tracts include both the corticospinal and corticobulbar tracts.

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.

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)

Most generally any NEURONS which are not motor or sensory. Interneurons may also refer to neurons whose AXONS remain within a particular brain region in contrast to projection neurons, which have axons projecting to other brain regions.

Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.

The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.

The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord.

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.

Compounds capable of relieving pain without the loss of CONSCIOUSNESS.

The lower part of the SPINAL CORD consisting of the lumbar, sacral, and coccygeal nerve roots.

A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.

Five fused VERTEBRAE forming a triangle-shaped structure at the back of the PELVIS. It articulates superiorly with the LUMBAR VERTEBRAE, inferiorly with the COCCYX, and anteriorly with the ILIUM of the PELVIS. The sacrum strengthens and stabilizes the PELVIS.

Refers to animals in the period of time just after birth.

A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.

A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.

Tomography using x-ray transmission and a computer algorithm to reconstruct the image.

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)

The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.

Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.

A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.

Common name for the only family (Petromyzontidae) of eellike fish in the order Petromyzontiformes. They are jawless but have a sucking mouth with horny teeth.

A class of nerve fibers as defined by their nerve sheath arrangement. The AXONS of the unmyelinated nerve fibers are small in diameter and usually several are surrounded by a single MYELIN SHEATH. They conduct low-velocity impulses, and represent the majority of peripheral sensory and autonomic fibers, but are also found in the BRAIN and SPINAL CORD.

Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia).

The space between the arachnoid membrane and PIA MATER, filled with CEREBROSPINAL FLUID. It contains large blood vessels that supply the BRAIN and SPINAL CORD.

Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.

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 pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.

A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)

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.

Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions.

A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358)

The observable response an animal makes to any situation.

Disturbances in mental processes related to learning, thinking, reasoning, and judgment.

Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.

Storage-stable glycoprotein blood coagulation factor that can be activated to factor Xa by both the intrinsic and extrinsic pathways. A deficiency of factor X, sometimes called Stuart-Prower factor deficiency, may lead to a systemic coagulation disorder.

The non-neuronal cells of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu, participate in the BLOOD-BRAIN BARRIER and BLOOD-RETINAL BARRIER, form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.

The relationship between the dose of an administered drug and the response of the organism to the drug.

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)

Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.

Amount of stimulation required before the sensation of pain is experienced.

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.

The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle.

The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM.

Neural tracts connecting one part of the nervous system with another.

The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.

Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)

The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.

An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)

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.

A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)

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.

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.

A variety of anesthetic methods such as EPIDURAL ANESTHESIA used to control the pain of childbirth.

The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.

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.

A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SATELLITE CELLS, PERINEURONAL of GANGLIA) according to their location. They form the insulating MYELIN SHEATH of axons in the central nervous system.

The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges.

An alkaloid found in the seeds of STRYCHNOS NUX-VOMICA. It is a competitive antagonist at glycine receptors and thus a convulsant. It has been used as an analeptic, in the treatment of nonketotic hyperglycinemia and sleep apnea, and as a rat poison.

Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.

Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.

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.

Injuries to the PERIPHERAL NERVES.

Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.

Nerve structures through which impulses are conducted from a nerve center toward a peripheral site. Such impulses are conducted via efferent neurons (NEURONS, EFFERENT), such as MOTOR NEURONS, autonomic neurons, and hypophyseal neurons.

Drugs that block nerve conduction when applied locally to nerve tissue in appropriate concentrations. They act on any part of the nervous system and on every type of nerve fiber. In contact with a nerve trunk, these anesthetics can cause both sensory and motor paralysis in the innervated area. Their action is completely reversible. (From Gilman AG, et. al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed) Nearly all local anesthetics act by reducing the tendency of voltage-dependent sodium channels to activate.

Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.

The communication from a NEURON to a target (neuron, muscle, or secretory cell) across a SYNAPSE. In chemical synaptic transmission, the presynaptic neuron releases a NEUROTRANSMITTER that diffuses across the synaptic cleft and binds to specific synaptic receptors, activating them. The activated receptors modulate specific ion channels and/or second-messenger systems in the postsynaptic cell. In electrical synaptic transmission, electrical signals are communicated as an ionic current flow across ELECTRICAL SYNAPSES.

A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the BLOOD-BRAIN BARRIER. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with MICROGLIA) respond to injury.

Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.

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.

Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Contractile tissue that produces movement in animals.

Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)

An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.

A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.

Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli.

This is one of 2 related pepsinogen systems in humans and is also known as pepsinogen. (The other is PEPSINOGEN C.) This includes isozymogens Pg1-Pg5 (pepsinogens 1-5, group I or products of PGA1-PGA5 genes). This is the main pepsinogen found in urine.

The three membranes that cover the BRAIN and the SPINAL CORD. They are the dura mater, the arachnoid, and the pia mater.

Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.

A reflex in which the AFFERENT NEURONS synapse directly on the EFFERENT NEURONS, without any INTERCALATED NEURONS. (Lockard, Desk Reference for Neuroscience, 2nd ed.)

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.

Electrical responses recorded from nerve, muscle, SENSORY RECEPTOR, or area of the CENTRAL NERVOUS SYSTEM following stimulation. They range from less than a microvolt to several microvolts. The evoked potential can be auditory (EVOKED POTENTIALS, AUDITORY), somatosensory (EVOKED POTENTIALS, SOMATOSENSORY), visual (EVOKED POTENTIALS, VISUAL), or motor (EVOKED POTENTIALS, MOTOR), or other modalities that have been reported.

A widely used local anesthetic agent.

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.

Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord.

Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.

Combined 3T diffusion tensor tractography and 1H-MR spectroscopy in motor neuron disease. (1/23)

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Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? (2/23)

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Mitochondrial abnormalities in spinal and bulbar muscular atrophy. (3/23)

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Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. (4/23)

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Autophagy and access: understanding the role of androgen receptor subcellular localization in SBMA. (5/23)

Ridding neurons of toxic misfolded proteins is a critical feature of many neurodegenerative diseases. We have recently reported that lack of access of nuclear polyglutamine-expanded androgen receptor (AR) to the autophagic degradation pathway is a critical point in pathogenesis. When mutant AR is contained within the cytoplasm, it can be degraded by autophagy, resulting in amelioration of its toxic effects, as has been observed in other polyglutamine expansion diseases involving cytoplasmic mutant proteins. However, we have also found that pharmacological induction of autophagy protects SBMA motor neurons from the toxic effects of even nuclear localized mutant AR, albeit without affecting mutant nuclear AR levels. Thus, we have further investigated the mechanism by which autophagy elicits therapeutic benefit in cell culture. We found that endogenous autophagy only slightly alters nuclear mutant AR aggregation compared to substantial effects on cytoplasmic AR aggregation. Interestingly, pharmacological activation of mTOR-dependent autophagy did not significantly alter nuclear AR aggregation, whereas we observed that it protects SBMA motor neurons. Our findings indicate that therapeutic intervention to induce autophagy represents a potential potent benefit for SBMA, and that it likely does so by protecting SBMA motor neurons independent of a direct effect on mutant AR. (+info)

Clinical features of spinal and bulbar muscular atrophy. (6/23)

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B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (7/23)

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Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy. (8/23)

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"The lateral corticospinal tract and spinal ventral horn in X-linked recessive spinal and bulbar muscular atrophy: a ... multiple system atrophy and X-linked recessive bulbospinal neuronopathy, with special reference to the loss of small neurons in ... Multiple system atrophy (MSA), has also been linked to the lateral grey column. MSA has been shown to reduce the cell count in ... Muscular atrophy has also been shown to have an effect on neurons of the anterior column. A large loss of large alpha motor ...

https://en.wikipedia.org/wiki/Grey_column

Bulbospinal polio. Approximately 19 percent of all paralytic polio cases have both bulbar and spinal symptoms; this subtype is ... the muscles no longer receive signals from the brain or spinal cord; without nerve stimulation, the muscles atrophy, becoming ... External links. .mw-parser-output .portal{border:solid #aaa 1px;padding:0}.mw-parser-output .portal.tleft{margin:0.5em 1em 0.5 ... This leads to the development of paralytic poliomyelitis, the various forms of which (spinal, bulbar, and bulbospinal) vary ...

https://en.wikipedia.org/wiki/Poliomyelitis

Vaginal and clitoral atrophy and dryness affects up to 50%-60% of postmenopausal women. Testosterone levels in men fall as they ... They assert that since the front wall of the vagina is inextricably linked with the internal parts of the clitoris, stimulating ... Although sexual function and sexuality after spinal cord injury is very often impacted, this injury does not deprive one of ... Di Marino, Vincent (2014). Anatomic Study of the Clitoris and the Bulbo-Clitoral Organ. Springer. p. 81. ISBN 978-3319048949. ...

https://en.wikipedia.org/wiki/Orgasm

Kennedys Disease (Bulbospinal Muscular Atrophy, X-Linked Spinal and Bulbar Muscular Atrophy). Kennedys disease is a rare ... Spinal bulbar muscular atrophy or SBMA. Symptoms tend to develop most commonly in middle age, but it is possible for them to ... Kennedys disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for ... producing the protein known as AR (androgen receptor). X-linked disorders are related to the X chromosome. Normally, a person ...

http://www.medic8.com/neurological-disorders/kennedys-disease.htm

z linked bulbo spinal atrophy, c linked bulbo spinal atrophy, d linked bulbo spinal atrophy, s linked bulbo spinal atrophy, x ... zx linked bulbo spinal atrophy, xz linked bulbo spinal atrophy, cx linked bulbo spinal atrophy, xc linked bulbo spinal atrophy ... dx linked bulbo spinal atrophy, xd linked bulbo spinal atrophy, sx linked bulbo spinal atrophy, xs linked bulbo spinal atrophy ... x l inked bulbo spinal atrophy, x li nked bulbo spinal atrophy, x lin ked bulbo spinal atrophy, x link ed bulbo spinal atrophy ...

http://www.spellorg.com/x%20linked%20bulbo%20spinal%20atrophy

z linked bulbo spinal atrophies, c linked bulbo spinal atrophies, d linked bulbo spinal atrophies, s linked bulbo spinal ... x linked bulbo spinal atr ophies, x linked bulbo spinal atroph ies, x linked bulbo spinal atrophi es, x linked bulbo spinal ... zx linked bulbo spinal atrophies, xz linked bulbo spinal atrophies, cx linked bulbo spinal atrophies, xc linked bulbo spinal ... dx linked bulbo spinal atrophies, xd linked bulbo spinal atrophies, sx linked bulbo spinal atrophies, xs linked bulbo spinal ...

http://www.spellorg.com/x%20linked%20bulbo%20spinal%20atrophies

"Bulbo-Spinal Atrophy, X-Linked" by people in this website by year, and whether "Bulbo-Spinal Atrophy, X-Linked" was a major or ... Bulbo-Spinal Atrophy, X-Linked*Bulbo-Spinal Atrophy, X-Linked. *Atrophies, X-Linked Bulbo-Spinal ... "Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Bulbo-Spinal Atrophy, X-Linked" by people in Profiles. ...

http://profiles.ouhsc.edu/display/69722

Bulbo-Spinal Atrophy, X-Linked. *Kennedy Disease. *Other: No intervention, observational. Observational. *Rigshospitalet, ... High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy. *Spinal and Bulbar Muscular Atrophy ... and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy. *Spinal and Bulbar Muscular Atrophy ... Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy. *Spinobulbar Muscular Atrophy ...

https://clinicaltrials.gov/ct2/results?cond=%22Kennedy+disease%22&show_rss=Y&sel_rss=new14

Atrophy. Muscular Atrophy. Motor Neuron Disease. Muscular Disorders, Atrophic. Bulbo-Spinal Atrophy, X-Linked. Pathological ... Spinal Bulbar Muscular Atrophy. Spinal and Bulbar Muscular Atrophy. SBMA. Motor Neuron Disease. ... Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron ... Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968 Jul;18(7): ...

https://clinicaltrials.gov/ct2/show/NCT01369901?term=Stroke&lup_s=03%2F22%2F2013&lup_d=14&show_rss=Y&sel_rss=mod14

The XBSMA meaning is X-linked bulbospinal muscular atrophy. The definition of XBSMA by AcronymAndSlang.com ... XBSN - X-Linked Recessive Bulbospinal Neuronopathy. *DMD - X-linked muscular dystrophy. *X-BSMA - X-linked bulbar and spinal ... "X-linked bulbospinal muscular atrophy". Q: A: How to abbreviate "X-linked bulbospinal muscular atrophy"?. "X-linked bulbospinal ... What is the abbreviation for X-linked bulbospinal muscular atrophy?. X-linked bulbospinal muscular atrophy can be abbreviated ...

http://acronymsandslang.com/definition/4311959/XBSMA-meaning.html

Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle ... Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002 Sep 10;59(5):770 ... medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy/ Spinal and bulbar muscular atrophy. ... Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that ...

https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy/

Action Potentials , Bulbo-Spinal Atrophy, X-Linked , Deglutition , Denervation , DNA , DNA Mutational Analysis , Dysarthria , ... A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome) ... A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome) ... He had muscle atrophy on tongue, both hand lower leg muscles with some fasciculations. All tendon reflexes were absent without ...

https://search.bvsalud.org/gim/resource/en/wpr-197978

The most common neurodegenerative disease in childhood is spinal muscular atrophy (SMA). The severe infantile type 1 (Werdnig- ... Bulbo-spinal Atrophy, X-linked. An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene ... In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are ... Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ...

https://www.bioportfolio.com/resources/pmarticle/1879895/Spinal-muscular-atrophy-Time-for-newborn-screening.html

1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18:671-680 ... 2002) Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59:770-772. ... 1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79. ... 2005) Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 57:687-694. ...

http://www.jneurosci.org/content/26/47/12106

X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of ... X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of ... Spinal and bulbar muscular atrophy (SBMA), also known as Kennedys disease, is a rare, ... Spinal and bulbar muscular atrophy (SBMA), also known as Kennedys disease, is a rare, ...

https://www.frontiersin.org/articles/10.3389/fneur.2018.00844/full

X-linked bulbospinal muscular atrophy (kennedy disease) 60 genetic heterogeneity mutations of different genes cause similar ...

https://www.brainscape.com/flashcards/uworld-assessment-block-1-415-2222944/packs/3729903

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968;18(7):671- ... Decremental responses to repetitive nerve stimulation in x-linked bulbospinal muscular atrophy. J Clin Neurol. 2013;9(1):32-35. ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352(6330):77-79.. View this ... Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat ...

https://www.jci.org/articles/view/73214

X-linked spinal and bulbar muscular atrophy; Bulbospinal muscular atrophy; Spinal and bulbar muscular atrophy; X-linked spinal ... and bulbar muscular atrophy; Bulbospinal muscular atrophy; X-linked bulbospinal amyotrophy; Spinobulbar muscular atrophy; SBMA ... X-linked recessive. manner. A condition is X-linked. if the mutated. responsible gene. is located on the X chromosome. (one of ... Spinal and bulbar muscular atrophy. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition/spinal-and-bulbar- ...

https://rarediseases.info.nih.gov/diseases/6818/index

... Spinal muscular atrophyClassification & external resources ICD-10 G12. ICD-9 335.0-335.1 OMIM 253300 ... Hereditary Bulbo-Spinal SMA Kennedys disease (X linked, Androgen receptor) * Spinal Muscular Atrophy with Respiratory Distress ... The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord. ... Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and ...

https://www.bionity.com/en/encyclopedia/Spinal_muscular_atrophy.html

Keywords: Motor neuron disease, bulbo-spinal atrophy, X-Linked, spironolactone, receptors, androgen ... Abstract: Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked ... spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).. ... Select this link to jump to content * Administrator log in Shibboleth log in ...

https://content.iospress.com/journals/journal-of-neuromuscular-diseases/3/1

Bulbo-Spinal Muscular Atrophy (Kennedys Syndrome; X-linked). BSMA. Bank Security Management Association. ... Want to thank TFD for its existence? Tell a friend about us, add a link to this page, or visit the webmasters page for free ...

https://acronyms.thefreedictionary.com/BSMA

Expression of X-linked bulbospinal muscular atrophy (Kennedy Disease) in two homozygous females. Neurology 59: 770-772, 2002. ... Propriospinal neurons contribute to bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. J ... Contribution of commissural projections to bulbospinal activation of locomotion in the in vitro neonatal rat spinal cord. J. ... Propriospinal neurons are sufficient for bulbospinal transmission of the locomotor command signal in the neonatal rat spinal ...

http://umanitoba.ca/faculties/health_sciences/medicine/units/intmed/about/schmidt.html

Bulbospinal Muscular Atrophy, X-linked. *Kennedy Disease. *Spinal and Bulbar Muscular Atrophy (SBMA) ... 1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex -linked recessive trait. Neurology 18:671- ... 2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264 ... 1999; Updated July 2014) Spinal and Bulbar Muscular Atrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ...

https://www.genedx.com/test-catalog/disorders/kennedy-disease/

208000006269 X-Linked Bulbo-Spinal Atrophy Diseases 0 claims description 3 * 125000005418 aryl aryl group Chemical group 0 ... 206010068597 Bulbospinal muscular atrophy congenital Diseases 0 claims description 3 * 201000001971 Huntingtons diseases ...

https://patents.google.com/patent/EA022007B1/en

Adult Onset X-Linked SMA, also known as Kennedys Syndrome or Bulbo-Spinal Muscular Atrophy, occurs only in men. Facial and ... Spinal Muscular Atrophy. by Lenny Parracino , Date Released : 17 Dec 2005 0 comments Print ... Spinal muscular atrophy (SMA), the number one genetic killer of children under the age of two, is a group of inherited and ... Would you please be able to give me some information on the disease spinal muscular atrophy? ...

https://www.ptonthenet.com/articles/Spinal-Muscular-Atrophy-2487

Severity of X-linked recessive bulbospinal neuronopathy correlates with the size of the tandem CAG repeat in androgen receptor ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-9. doi:10.1038/352077a0. ... Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006;129:1446-55. doi: ... Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008;264: ...

https://jnnp.bmj.com/content/87/8/810?ijkey=f1a47aa82633d7a1f5654326e9e25341289a5aba&keytype2=tf_ipsecsha

Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. The ... Kennedys syndrome - bulbo-spinal muscular atrophy]. SZABÓ Antal, MECHLER Ferenc. [ ... such as gynaecomastia or testicular atrophy. The electrophysiological examinations are the keypoint to the diagnosis. ...

https://elitmed.hu/en/publications/clinical-neuroscience/anxiety-in-epilepsy-based-on-two-case-reports

muscular atrophy synonyms, muscular atrophy pronunciation, muscular atrophy translation, English dictionary definition of ... muscular atrophy. Translations. English: muscular atrophy n Muskelatrophie f, Muskelschwund m. German / Deutsch: Muskelatrophie ... 4,5) Specific genetic tests are available for X-linked bulbospinal neuronopathy (Kennedys disease), which causes a slowly ... Spinal muscular atrophy (SMA) has plagued humanity for generations.. Facts about spinal muscular atrophy ...

https://www.thefreedictionary.com/muscular+atrophy

bulbospinal atrophy; X-linked disease from CAG repeat expansion encoding androgen receptor apparently; leads to distal limb ... juvenile spinal muscular atrophy, hereditary or sporadic, affects proximal limbs, gradually progressive. KULCHITSKYS CELLS. ... Related Links · Eponym Books on Amazon.com. ARTICLE TOOLS. · Eponyms section. · Articles by Andrew J. Yee, M.D.. · Add to my ... criteria for linking a specific microorganism to a disease 1. organism must be found in lesion of disease; 2. organism can be ...

http://www.rxpgonline.com/article832.html

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology. 1968;18(7):671- ... Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy. A ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352(6330):77-79.. View this ... Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat ...

https://www.jci.org/articles/view/99042

Kennedys disease, also known as bulbospinal muscular atrophy, is a rare, X -linked recessive neurodegenerative disorder ... Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. ... To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy ( ... The patient was suspicious of AIS family history and the pedigree was made to analyze her family which was possibly X-linked ...

https://pesquisa.bvsalud.org/portal/?lang=pt&q=mh:S%C3%ADndrome+de+Resist%C3%AAncia+a+Andr%C3%B3genos/complica%C3%A7%C3%B5es

DNA testing for X-linked bulbospinal muscular atrophy was negative, as were antibody titers to HIV-1 and 2, acetylcholine ... Spinal fluid was acellular with normal glucose (68 mg/dl) and protein (21 mg/dl). Gadolinium-enhanced MRI of the brain and ... Unilateral hypoglossal nerve atrophy as a late complication of radiation therapy of head and neck carcinoma: a report of four ... There was diffuse atrophy of the anterior cervical musculature, more prominent on the left, with continuous undulating ...

https://n.neurology.org/content/46/6/1604?ijkey=22f5d385bfce9340efcaf60dbd63ca95b7cb756e&keytype2=tf_ipsecsha

Hanemann CO, Sperfeld AD, Karitzky J, Schreiber H, Brummer D, Haussler J & Ludolph AC 2002 X-linked bulbospinal neuronopathy ... RudnikSchoneborn S 1997 Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region ANNALS OF ... Hanemann CO, Sperfeld AD, Karitzky J, Schreiber H, Brummer D, Haussler J & Ludolph AC 2002 X-linked bulbospinal neuronopathy ... Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Haussler J, Ludolph AC & Hanemann CO 2002 X-linked bulbospinal neuronopathy ...

https://www.plymouth.ac.uk/staff/oliver-hanemann

Kennedy's disease is a rare genetic condition also known as Kennedy's syndrome, Spinal bulbar muscular atrophy or SBMA. (medic8.com)
Also searched for Androgen Receptor and Spinal and bulbar muscular atrophy . (clinicaltrials.gov)
Spinal and bulbar muscular atrophy (SBMA) is an inherited disorder that affects men. (clinicaltrials.gov)
Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron disease for which there is currently no treatment. (clinicaltrials.gov)
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). (medlineplus.gov)
Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. (medlineplus.gov)
Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. (medlineplus.gov)
The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat . (medlineplus.gov)
In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. (medlineplus.gov)
People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age. (medlineplus.gov)
Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. (medlineplus.gov)
Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (medlineplus.gov)
Spinal and bulbar muscular atrophy (SBMA) is a hereditary neurodegenerative disease caused by an expansion of a trinucleotide CAG repeat encoding the polyglutamine tract in the androgen receptor ( AR ) gene. (jneurosci.org)
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. (frontiersin.org)
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, adult onset, neuromuscular disorder ( 1 ) characterized by slowly progressive lower motor neuron (LMN) degeneration, skeletal muscle pathology and by a spectrum of multi-organ involvement ( 2 - 4 ). (frontiersin.org)
2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. (genedx.com)
2013) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. (genedx.com)
1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex -linked recessive trait. (genedx.com)
1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254. (genedx.com)
2009). Clinical features of spinal and bulbar muscular atrophy. (genedx.com)
2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. (genedx.com)
1996) Founder effect in spinal and bulbar muscular atrophy (SBMA). (genedx.com)
Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. (elitmed.hu)
The characteristic features of the disease become prominent in the 4-5th decades: proximal muscle wasting and weakness, bulbar signs, fasciculations in skeletal muscles, subtle signs of endocrine dysfunction, such as gynaecomastia or testicular atrophy. (elitmed.hu)
Objective To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). (bmj.com)
Such enlarged genetic segments have also been discovered in spinal-bulbar muscular atrophy , a rare inherited muscle-wasting syndrome. (thefreedictionary.com)
Kennedy disease (KD), an X linked spinal and bulbar muscular atrophy, is caused by an expansion of a polymorphic tandem CAG repeat in the first exon of the androgen receptor (AR) gene. (pubmedcentralcanada.ca)
1 The clinical phenotype is characterised by an adult onset slowly progressive proximal and symmetrical weakness of the limb and bulbar muscles, muscular atrophy and generalised fasciculations, predominantly affecting the facial muscles. (pubmedcentralcanada.ca)
Motor neuron degeneration resulting from the aggregation of the androgen receptor with an expanded polyglutamine tract (AR-polyQ) has been linked to the development of spinal and bulbar muscular atrophy (SBMA or Kennedy disease). (elsevier.com)
Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA). (cdc.gov)
Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy. (cdc.gov)
Clinical manifestations and molecular genetics of spinal bulbar muscular atrophy: report of 5 cases]. (cdc.gov)
La atrofia muscular espinal y bulbar es una enfermedad neurológica caracterizada por degeneración gradual de la motoneurona inferior, que resulta en debilidad muscular, atrofia y fasciculaciones. (bvsalud.org)
En la evolución se evidencia compromiso bulbar. (bvsalud.org)
Spinal and bulbar muscular atrophy (SBMA) is a neurological disease characterized by the progressive degeneration of the inferior motor neurones, what results in muscle weakness, atrophy and fasciculations. (bvsalud.org)
ABSTRACT The X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. (bvsalud.org)
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. (elsevier.com)
We analyzed the polymorphic (CAG)(n) and (GGC)(n) repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. (elsevier.com)
Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this protein. (elsevier.com)
Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked disease associated with the expansion of the CAG triplet repeat present in exon 1 of the androgen receptor (AR) gene. (ox.ac.uk)
Altered protein homeostasis underlies degenerative diseases triggered by misfolded proteins, including spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder caused by a CAG/glutamine expansion in the androgen receptor. (prolekarniky.cz)
Spinal and bulbar muscular atrophy (SBMA), a member of this group, is a progressive neuromuscular disorder caused by an expanded glutamine tract near the amino terminus of the androgen receptor (AR) [3] . (prolekarniky.cz)
Although spinal and bulbar muscular atrophy (SBMA) has been classified as a motor neuron disease, several reports have indicated the primary involvement of skeletal muscle in the pathogenesis of this devastating disease. (researchprotocols.org)
X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. (tremorjournal.org)
Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. (tremorjournal.org)
Aicua I, Verhagen O, Arenaza N, Cubo E. Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy. (tremorjournal.org)
X-linked spinal and bulbar muscular atrophy (SBMA) is a slowly progressive, degenerative disorder of the lower motor neurons caused by an expanded cytosine, adenine, guanine (CAG) repeat length in the first exon of the gene encoding the androgen receptor, located on chromosome X (Xq11-12). (tremorjournal.org)
Bulbospinal mononeuropathy (Kennedy's syndrome) X linked, presents in men with symmetrical weakness, atrophy and fasciculations of bulbar and proximal limb muscles, testicular atrophy and gynecomastia.Occurs early, diagnosed by a CAG repeat, and is associated with a normal lifespan. (blogspot.com)
Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy. (cocites.com)
Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. (cocites.com)
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. (cocites.com)
Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. (cocites.com)
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. (cocites.com)
Progressive proximal spinal and bulbar muscular atrophy of late onset. (cocites.com)
Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy. (cocites.com)
Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy. (cocites.com)
Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). (nih.gov)

Intraperitoneal injection of ASC-J9 into AR-polyQ transgenic SBMA mice markedly improved disease symptoms, as seen by a reduction in muscular atrophy. (elsevier.com)
abstract = "Introduction: Spinobulbar muscular atrophy (SBMA) is an inherited adult-onset motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor. (unicatt.it)
Late in the course of disease, the pathologic features of SBMA include loss of motor neurons in the brainstem and spinal cord and the occurrence of myopathic and neurogenic changes in skeletal muscle 6 , 7 . (prolekarniky.cz)
The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA. (tremorjournal.org)

Kennedy's disease is classed as an X-linked condition, which is caused by a genetic mutation in a gene responsible for producing the protein known as AR (androgen receptor). (medic8.com)
We confirmed a X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome ). (bvsalud.org)
4,5) Specific genetic tests are available for X-linked bulbospinal neuronopathy (Kennedy's disease), which causes a slowly progressive lower motor neurone syndrome, sensory neuropathy, and partial androgen insensitivity leading to gynaecomastia and the recessive form of proximal spinal muscular atrophy which can occasionally come on in adult life. (thefreedictionary.com)
Adult-onset SMA may be autosomal recessive, autosomal dominant or X-linked recessive (a form of SMA known as Bulbo-SMA or Kennedy's syndrome). (taoiststudy.com)

[1] [2] Affected people may also have gynecomastia , testicular atrophy (reduction in size or function of the testes ), and reduced fertility as a result of mild androgen insensitivity. (nih.gov)

The primary objective of this study is to demonstrate a pharmacodynamic effect of CK-2127107 on measures of skeletal muscle function or fatigability in patients with Spinal Muscular Atroph. (bioportfolio.com)
Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. (bmj.com)
We measure the levels of 17 phosphorylated proteins in spinal cord and skeletal muscle of AR-97Q mice at three stages. (elsevier.com)

Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. (medlineplus.gov)
Spinal Muscular Atrophy (SMA) is neurodegenerative disease of anterior horn cells of spinal cord and represents the second more frequent pathology in childhood. (bioportfolio.com)
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. (bioportfolio.com)
Spinal Muscular Atrophy ( SMA ) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem . (bionity.com)
A detailed understanding of the cellular and neural network properties giving rise to locomotion (i.e., walking) is essential in order to develop logical strategies aimed at restoring motor function after spinal cord injury. (umanitoba.ca)
This research, using lower mammalian models, is of direct relevance to human motor control, and takes place in the Spinal Cord Research Centre in the Department of Physiology. (umanitoba.ca)
Neurochemical excitation of thoracic propriospinal neurons improves hindlimb stepping in adult rats with spinal cord lesions. (umanitoba.ca)
Neurochemical excitation of propriospinal neurons facilitates locomotor command signal transmission in the lesioned spinal cord J. Neurophysiol. (umanitoba.ca)
Contribution of commissural projections to bulbospinal activation of locomotion in the in vitro neonatal rat spinal cord. (umanitoba.ca)
Propriospinal neurons are sufficient for bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. (umanitoba.ca)
Propriospinal neurons contribute to bulbospinal transmission of the locomotor command signal in the neonatal rat spinal cord. (umanitoba.ca)
Spinal Cord 44: 322-325, 2006. (umanitoba.ca)
Is NMDA receptor activation essential for the production of locomotor-like activity in the neonatal rat spinal cord? (umanitoba.ca)
A reliable technique for the induction of locomotor-like activity in the in vitro neonatal rat spinal cord using brainstem electrical stimulation. (umanitoba.ca)
In: Spinal Cord Trauma: Neural Repair and Functional Recovery. (umanitoba.ca)
The role of serotonin in reflex modulation and locomotor rhythm production in the mammalian spinal cord. (umanitoba.ca)
MacLean J. and Schmidt B.J . Voltage-sensitivity of motoneuron NMDA receptor channels is modulated by serotonin in the neonatal rat spinal cord. (umanitoba.ca)
The grey column refers to a somewhat ridge-shaped mass of grey matter in the spinal cord. (wikipedia.org)
Gray commisure" (sic) in the image to the right), all of which are visible in cross-section of the spinal cord. (wikipedia.org)
The anterior grey column, also known as the anterior horn of spinal cord, comprises three different types of neurons: large alpha motor neurons, medium gamma motor neurons, and small neurons thought to be interneurons. (wikipedia.org)
The posterior grey column, also known as the posterior (or dorsal) horn of spinal cord, is divided into several laminae, based on the type of sensory information sent to each section. (wikipedia.org)
Lamina I is also known as the marginal nucleus of spinal cord. (wikipedia.org)
Late effects of radiation therapy can occur in the cranial nerve musculature that are similar to well-recognized syndromes affecting the brachial plexus and spinal cord. (neurology.org)
This mutation leads to hormone-dependent AR unfolding, and to the predominant loss of lower motor neurons in the brainstem and spinal cord of affected males. (prolekarniky.cz)
The signs of spinal cord reflex considerable voluntary control bladder neck contracture. (arohaphilanthropies.org)
Spinal muscular atrophy (SMA) is a disease characterized by progressive degeneration of motor neurons in the spinal cord. (taoiststudy.com)
Spinal muscular atrophy (SMA) affects the nerves in an area of the spinal cord called the anterior horn. (taoiststudy.com)

Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes safe drug delivery. (bioportfolio.com)
Cervical puncture to deliver nusinersen in patients with spinal muscular atrophy. (bioportfolio.com)
To report our experience delivering intrathecal nusinersen through cervical puncture in patients with spinal muscular atrophy (SMA) with no lumbar access. (bioportfolio.com)
New research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy offers an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers. (thefreedictionary.com)

Diseases in this category include Werdnig- Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD , most of which are hereditary . (spellorg.com)
HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (ucdenver.edu)

X linked spinobulbar muscular atrophy (Kennedy disease (KD)), which is clinically characterised mainly by neuromuscular and endocrine symptoms, has to be considered as a multisystem disorder. (pubmedcentralcanada.ca)
Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. (cocites.com)

He had muscle atrophy on tongue , both hand lower leg muscles with some fasciculations . (bvsalud.org)
Examination revealed gynecomastia, mild facial diplegia with temporal bilateral muscular atrophy, tongue fasciculations, lower extremity hypopallesthesia, muscle wasting and weakness primarily in the proximal limb muscles, and generalized areflexia. (tremorjournal.org)
Physical examination of our patient: gynecomastia, mild facial diplegia with temporal bilateral muscular atrophy, tongue fasciculations, positional and action hands tremor, and normal gait. (tremorjournal.org)
Videotape segment showing gynecomastia, mild facial diplegia with bilateral temporal muscular atrophy, tongue fasciculations, jaw tremor, absence of rest tremor, postural land kinetic tremors of the hands, and normal gait. (tremorjournal.org)

Duchenne muscular dystrophy (DMD) is an X-linked disease of progressive muscle deterioration and weakness. (semanticscholar.org)

The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)

This type of mutation has also been found to cause a variety of neurodegenerative disorders, termed polyglutamine diseases, such as Huntington's disease (HD), several forms of spinocerebellar ataxia, and dentatorubral pallidoluysian atrophy ( Gatchel and Zoghbi, 2005 ). (jneurosci.org)
Polyglutamine-induced transcriptional dysregulation of the dynactin p150 subunit (dynactin 1), an axonal motor-associated protein, resulted in perturbation of retrograde axonal transport in spinal motor neurons in the early stage of the disease. (jneurosci.org)

Subtle decreases in grey matter volume, mainly localised in frontal areas, were found, but extensive white matter atrophy was observed, particularly in frontal areas, but also involving multiple additional subcortical areas, the cerebellar white matter and the dorsal brainstem from the midbrain to the medulla oblongata. (pubmedcentralcanada.ca)

[2] Kennedy disease is caused by a mutation in the androgen receptor ( AR ) gene and is inherited in an X-linked recessive manner. (nih.gov)
Kennedy disease is inherited in an X-linked recessive manner. (nih.gov)
Expression of X- linked bulbospinal muscular atrophy (Kennedy Disease) in two homozygous females. (umanitoba.ca)
Designed to address the needs of patients suffering from numerous respiratory complications, including chronic obstructive pulmonary disease, pneumonia, severe asthma, pleurisy, muscular atrophy , respiratory failure, neuromuscular disease and other diseases or injuries that impair respiration. (thefreedictionary.com)
X-linked disease). (invictagenetics.pl)
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. (umassmed.edu)
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. (umassmed.edu)
Machado Jospeh disease= spinocerebellar atrophy tpe 3. (blogspot.com)
There are several different types of spinal muscular atrophy: type I (severe, also known as Werdnig-Hoffmann syndrome), type II (intermediate) and type III (mild, also known as Kugelberg-Welander disease) affect children, while there are a variety of types of adult-onset SMA that develop later in life. (taoiststudy.com)

Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. (bioportfolio.com)
Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. (bioportfolio.com)
Brionni Alexander is the only child in Scotland with type one Spinal Muscular Atrophy , an incurable genetic condition. (thefreedictionary.com)
It possesses a genetic etiology with X-linked recessive inheritance mode, and thus affects men. (bvsalud.org)

The level of phosphorylated Src (p-Src) is markedly increased in the spinal cords and skeletal muscles of AR-97Q mice prior to the onset. (elsevier.com)
The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. (taoiststudy.com)

Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)

In order to be diagnosed with Spinal muscular atrophy, symptoms need to be present. (bionity.com)

A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (medlineplus.gov)
To screen for carriers of SMN1 gene mutation, which underlies spinal muscular atrophy (SMA), in 4931 pregnant women from Liuzhou region of Guangxi, and to determine the carrier rate. (bioportfolio.com)
1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. (genedx.com)
In the X-linked androgen insensitivity syndrome, defects in the androgen receptor gene have prevented the normal development of both internal and external male structures in 46, XY individuals. (semanticscholar.org)
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. (childrensmercy.org)

There was diffuse atrophy of the anterior cervical musculature, more prominent on the left, with continuous undulating movements of the tongue at rest and deviation to the left on attempted protrusion Figure 1 . (neurology.org)
Delayed radiation-induced atrophy of the anterior cervical musculature, with tongue deviation to the left on attempted protrusion. (neurology.org)

X-linked disorders are related to the X chromosome. (medic8.com)

Barth syndrome is transmitted in an X-linked recessive pattern. (harvard.edu)

Atrophy may result from diseases intrinsic to muscle tissue (e.g. (bvsalud.org)

These nerve cells become damaged, breaking the link between the brain and the muscles. (taoiststudy.com)

Rare congenital X-linked disorder of lipid metabolism. (harvard.edu)

A atrofia muscular bulbo-espinal (BSMA) é uma doença neurológica caracterizada pela degeneração gradual do neurônio motor inferior causando fraqueza muscular, atrofia e fasciculações. (bvsalud.org)

Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi. (bioportfolio.com)

To determine whether thyrotropin-releasing hormone (TRH) can increase muscle strength in children with spinal muscular atrophy types 2 and 3. (curehunter.com)

The absence of true ankylosis permits surgery for arytenoid mobilization and VC medialization, but with protracted paralysis, muscular atrophy and fibrosis may be limiting factors to medialization. (thefreedictionary.com)

Anatomy59

Organisms8

Diseases87

Chemicals and Drugs23

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Psychiatry and Psychology12

Phenomena and Processes35

Disciplines and Occupations2

Information Science2

Health Care8

Combined 3T diffusion tensor tractography and 1H-MR spectroscopy in motor neuron disease. (1/23)

Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? (2/23)

Mitochondrial abnormalities in spinal and bulbar muscular atrophy. (3/23)

Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. (4/23)

Autophagy and access: understanding the role of androgen receptor subcellular localization in SBMA. (5/23)

Clinical features of spinal and bulbar muscular atrophy. (6/23)

B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (7/23)

Prenatal flutamide enhances survival in a myogenic mouse model of spinal bulbar muscular atrophy. (8/23)

Atrophy

Spinal Cord

Spinal Cord Injuries

Muscular Atrophy

Muscular Atrophy, Spinal

Optic Atrophy

Spinal Muscular Atrophies of Childhood

Injections, Spinal

Spinal Cord Diseases

Spinal Nerves

Multiple System Atrophy

Anesthesia, Spinal

Spinal Nerve Roots

Spinal Cord Neoplasms

Spinal Canal

Spinal Diseases

Spinal Cord Compression

Spinal Neoplasms

Spinal Stenosis

Spinal Fusion

Olivopontocerebellar Atrophies

Spinal Injuries

Gyrate Atrophy

Survival of Motor Neuron 1 Protein

Motor Neurons

Magnetic Resonance Imaging

Ganglia, Spinal

Spinal Cord Ischemia

SMN Complex Proteins

Geographic Atrophy

Paraplegia

Muscular Disorders, Atrophic

Survival of Motor Neuron 2 Protein

Spine

Thoracic Vertebrae

Tuberculosis, Spinal

Laminectomy

Spinal Curvatures

Cervical Vertebrae

Rats, Sprague-Dawley

Hematoma, Epidural, Spinal

Posterior Horn Cells

Optic Atrophy, Autosomal Dominant

Muscle, Skeletal

Lumbosacral Region

Anterior Horn Cells

Lumbar Vertebrae

Brain

Disease Models, Animal

X Chromosome

Spinal Fractures

Bulbo-Spinal Atrophy, X-Linked

Spinal Cord Regeneration

Hindlimb Suspension

Axons

Quadriplegia

Pain

Trigeminal Nucleus, Spinal

Hyperalgesia

Time Factors

Locomotion

Recovery of Function

Myelography

Manipulation, Spinal

Electromyography

Neurons

Gastritis, Atrophic

Nerve Regeneration

Neuralgia

Paralysis

Nerve Tissue Proteins

Epidural Space

Pain Measurement

SKP Cullin F-Box Protein Ligases

Cordotomy

Hindlimb

Spinal Puncture

Myelitis

Electric Stimulation

Scoliosis