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Results 1 - 10 of 29 for Progressive spinal muscular atrophy
  1. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... Rivera syndrome SMA-PME SMAPME Genetic Testing Registry: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  2. Spinal muscular atrophy 
    ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  3. ASAH1 gene 
    ... the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition is characterized ... Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec;86(6): ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  4. Farber lipogranulomatosis 
    ... associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9): ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  5. Infantile-onset ascending hereditary spastic paralysis 
    ... hereditary spastic paraplegias. These disorders are characterized by ... spinal cord that control muscle movement. Hereditary spastic paraplegias ...
    https://medlineplus.gov/...et-ascending-hereditary-spastic-paralysis - Genetics
  6. Amyotrophic lateral sclerosis 
    Amyotrophic lateral sclerosis (ALS) is ... of muscle mass, and an inability to control movement.There are many different types ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  7. Spinal and bulbar muscular atrophy 
    ... throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and ... Spinal and bulbar muscular atrophy results from a particular type of mutation in ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  8. Spinal muscular atrophy with respiratory distress type 1 
    Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  9. 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 type V Spinal muscular atrophy, distal, with ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  10. 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 movement, primarily in the legs. ...
    https://medlineplus.gov/...istal-hereditary-motor-neuropathy-type-ii - Genetics
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