Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 17 for spinal muscular atrophy
  1. SMN1 gene 
    ... the SMN1 gene have been found to cause spinal muscular atrophy. This condition is characterized by a loss of ... for movement (skeletal muscles) that worsens with age. Spinal muscular atrophy has a wide range of severity. There are ...
    https://medlineplus.gov/genetics/gene/smn1 - Genetics
  2. SMN2 gene 
    ... copies of the SMN2 gene do not cause spinal muscular atrophy, but they modify the severity of the disorder. ... for movement (skeletal muscles) that worsens with age. Spinal muscular atrophy has a wide range of severity. There are ...
    https://medlineplus.gov/genetics/gene/smn2 - Genetics
  3. TRPV4 gene 
    ... Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by weakness of muscles in the legs and hips, and scapuloperoneal spinal muscular atrophy, which involves weakness and wasting (atrophy) of muscles ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  4. IGHMBP2 gene 
    ... the IGHMBP2 gene have been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is ... 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
  5. UBA1 gene 
    ... have been reported to cause X-linked infantile spinal muscular atrophy. This condition is characterized by severe muscle weakness ... UBA1 gene variants that cause X-linked infantile spinal muscular atrophy are inherited and present in all cells in ...
    https://medlineplus.gov/genetics/gene/uba1 - Genetics
  6. BICD2 gene 
    ... the BICD2 gene have been found to cause spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition ... Gene ClinVar Martinez-Carrera LA, Wirth B. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important ...
    https://medlineplus.gov/genetics/gene/bicd2 - Genetics
  7. ASAH1 gene 
    ... the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition ... Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec; ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  8. DYNC1H1 gene 
    ... have been found to cause a condition called spinal muscular atrophy with lower extremity predominance (SMA-LED). This condition ... in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  9. AR gene 
    ... the AR gene have been found to cause spinal and bulbar muscular atrophy. This condition affects specialized nerve cells that control ... motor neurons). The AR gene variants that cause spinal and bulbar muscular atrophy are an expansion of the CAG trinucleotide repeat ...
    https://medlineplus.gov/genetics/gene/ar - Genetics
  10. GARS1 gene 
    ... 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
previous · 1 · 2 · next