Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually...
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Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular...
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muscles; Distal spinal muscular atrophies (which significantly overlap with distal hereditary motor neuronopathies) where they affect primarily distal muscles...
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Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease...
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Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary...
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Arthrogryposis (redirect from Arthrogryposis spinal muscular atrophy)
congenita distal (AMCD), also known as X-linked spinal muscular atrophy type 2. Gordon syndrome, also known as distal arthrogryposis type 3. Arthrogryposis...
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Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very rare childhood-onset genetic...
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system of classification groups many of DHMNs under the heading of spinal muscular atrophies.[citation needed] In 1993, A. E. Hardnig proposed to classify...
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of consciousness Distal hereditary motor neuropathy type V Distal spinal muscular atrophy type 1 Distal spinal muscular atrophy type 2 Dizziness Down...
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Motor neuron diseases (category Systemic atrophies primarily affecting the central nervous system)
(PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA)...
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Charcot–Marie–Tooth disease (redirect from Peroneal muscular atrophy type 1)
Médicale (in French). 6: 97–138. Tooth HH (1886). The peroneal type of progressive muscular atrophy (MD thesis). London. Kumar DR, Aslinia F, Yale SH, Mazza...
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muscular dystrophy Muscle hypertrophy Muscular Dystrophy UK Muscular Dystrophy Association (United States) Muscular Dystrophy Canada Spinal muscular atrophies...
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Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive...
174 KB (16,337 words) - 04:51, 20 May 2024
ALS (redirect from Primary muscular atrophy)
neurons in the spinal cord. Primary lateral sclerosis (PLS) involves degeneration of only the upper motor neurons, and progressive muscular atrophy (PMA) involves...
130 KB (14,008 words) - 22:32, 25 May 2024
factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene. Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal...
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Tetraplegia (redirect from Spinal paralysis)
touch, pressure, heat, pinprick/pain, and proprioception. In these types of spinal cord injury, it is common to have a loss of both sensation and motor...
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system. Amyotrophic lateral sclerosis Spinal muscular atrophy Spinal muscular atrophy with respiratory distress type 1 Atypical motor neuron diseases Dorsal...
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SMARD may refer to: Distal spinal muscular atrophy type 1, a rare neuromuscular disorder SMARD, a data portal provided by the German Federal Network Agency...
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Mutations in the SIGMAR1 gene have been associated with distal spinal muscular atrophy type 2. The following ligands have high affinity for the σ1 receptor...
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Ehlers–Danlos syndrome (redirect from Ehlers-Danlos syndrome, type 3)
hypotonia and/or muscle atrophy that improves with age, proximal joint contractures of the knee, hip, and elbow, and hypermobility of distal joints (ankles, wrists...
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Polyneuropathy in dogs and cats (redirect from Birman cat distal polyneuropathy)
autosomal recessive trait. Spinal muscular atrophy occurs in cats and dogs, and is caused by the death of nerve cells in the spinal cord. This progressive...
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diseases and their caretakers. Mindy Henderson, diagnosed with type 2 spinal muscular atrophy (SMA) and a patient advocate, is the editor-in-chief as of 2023...
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neoplasm Spinal dysostosis type Anhalt Spinal muscular atrophy Spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with lower...
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nasal tip Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease; muscle cramps and progressive weakness Spinal muscular atrophy caused...
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Syndrome". "Distal Myopathies - Types of Distal MD". Muscular Dystrophy Association. 2015-12-18. Retrieved 2019-04-16. "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY...
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X-linked spinal muscular atrophy Intellectual developmental disorder, autosomal dominant 64, 65, and 70 Intellectual disability, autosomal dominant 1 Intellectual...
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Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V". The American Journal of Human Genetics. 72 (5):...
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Arthrogryposis renal dysfunction cholestasis syndrome Arthrogryposis spinal muscular atrophy Arylsulfatase A deficiency Asbestosis Ascariasis Ascher's syndrome...
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muscle hyperplasia, muscle hypertrophy, muscle pseudohypertrophy (muscle atrophy with infiltration of fat or other tissue), or symmetrical subcutaneous...
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X-linked Charcot–Marie–Tooth disease (section Types)
Charcot–Marie–Tooth disease type 1: This subtype is characterized by childhood-onset progressive severe muscle weakness and atrophy of the distal lower limbs and...
16 KB (1,756 words) - 11:03, 25 August 2023