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Results 1 - 10 of 26 for Spinal muscular atrophy type 4
  1. TRPV4 gene 
    ... HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB PULMONARY DISEASE, ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  2. Spinal muscular atrophy 
    ... have three or four copies, and those with type IV have four or more copies. Other factors, many unknown, also contribute to the variable severity of spinal muscular atrophy. SMN1 SMN2 Spinal muscular atrophy is inherited in ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  3. Distal hereditary motor neuropathy, type V 
    ... 5 Distal hereditary motor neuronopathy, type V Distal spinal muscular atrophy, type V DSMAV HMN V Spinal muscular atrophy, distal ... Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72( ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  4. SMN2 gene 
    ... a wide range of severity. There are many types of spinal muscular atrophy that differ in age of onset and level ... 0883073807305666. Citation on PubMed Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015. ...
    https://medlineplus.gov/genetics/gene/smn2 - Genetics
  5. SMN1 gene 
    ... a wide range of severity. There are many types of spinal muscular atrophy that differ in age of onset and level ... 0883073807305666. Citation on PubMed Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015. ...
    https://medlineplus.gov/genetics/gene/smn1 - Genetics
  6. X-linked infantile spinal muscular atrophy 
    ... characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. F1000Res. 2017 Sep 4;6:1636. doi: 10.12688/f1000research.11878.1. ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  7. Distal hereditary motor neuropathy, type II 
    Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects ...
    https://medlineplus.gov/...istal-hereditary-motor-neuropathy-type-ii - Genetics
  8. Infantile-onset ascending hereditary spastic paralysis 
    ... paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only ...
    https://medlineplus.gov/...et-ascending-hereditary-spastic-paralysis - Genetics
  9. Amyotrophic lateral sclerosis 
    ... movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.There are many different types of ALS; these types are distinguished by their ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  10. Gyrate atrophy of the choroid and retina 
    ... disturbances in the nerves connecting the brain and spinal cord to muscles ... atrophy, a particular type of muscle fibers (type II fibers) break down ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
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