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Results 1 - 10 of 30 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. HSPB8 gene 
    ... damage to specialized neurons in the brain and spinal cord that control muscle movement (motor neurons). Damage to motor neurons leads to progressive weakness and loss of muscle tissue (atrophy) in the feet and legs. Research suggests that ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  6. HSPB1 gene 
    ... damage to specialized neurons in the brain and spinal cord that control muscle movement (motor neurons). Damage to motor neurons leads to progressive weakness and loss of muscle tissue (atrophy) in the feet and legs. HSPB1 gene variants ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
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