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Results 1 - 10 of 22 for Distal spinal muscular atrophy
  1. Distal hereditary motor neuropathy, type V 
    ... type 5 Distal hereditary motor neuronopathy, type V Distal spinal muscular atrophy, type V DSMAV HMN V Spinal muscular atrophy, ... in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  2. Spinal muscular atrophy with respiratory distress type 1 
    ... signs and symptoms of the condition. Autosomal recessive distal spinal muscular atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  3. 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
  4. TRPV4 gene 
    ... includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by weakness of muscles in ... PubMed BRACHYOLMIA TYPE 3; BCYM3 ... SPINAL MUSCULAR ATROPHY; SPSMA TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. GARS1 gene 
    ... in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May; ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  6. IGHMBP2 gene 
    ... U, Schuetz A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  7. DCTN1 gene 
    ... Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol. 2005 May; ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  8. Describing SMA (Cure SMA)  
    Spinal Muscular Atrophy/Start Here ... Spinal Muscular Atrophy ... Cure SMA ... Make today a breakthrough. No two people with spinal muscular atrophy (SMA) have identical ...
    https://www.curesma.org/describing-sma - External Health Links
  9. X-linked infantile spinal muscular atrophy 
    ... distal, X-linked Arthrogryposis, X-lined, type I Distal X-linked AMC Infantile X-linked SMA SMAX2 Spinal muscular atrophy, infantile X-linked Spinal muscular atrophy, X-linked ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  10. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... symptoms of the condition. Hereditary myoclonus with progressive distal muscular atrophy Jankovic-Rivera syndrome SMA-PME SMAPME Genetic Testing Registry: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
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