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Results 1 - 10 of 11 for SMA
  1. Spinal muscular atrophy with lower extremity predominance 
    Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  2. X-linked infantile spinal muscular atrophy 
    X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  3. 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
  4. Spinal muscular atrophy with progressive myoclonic epilepsy 
    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that begins in childhood. SMA-PME causes muscle weakness and wasting (atrophy) and a combination of seizures and ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  5. Spinal muscular atrophy 
    Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal ... worsens with age. There are many types of spinal muscular atrophy that are caused by changes in the same ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  6. 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
  7. Spinal and bulbar muscular atrophy 
    ... 18. Citation on PubMed Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. Eur J Neurol. ...
    https://medlineplus.gov/.../spinal-and-bulbar-muscular-atrophy - Genetics
  8. 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
  9. Farber lipogranulomatosis 
    ... associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep; ... Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20; ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  10. Pontocerebellar hypoplasia 
    ... cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
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