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References OMIM Gene GeneReviews HGMD HGNC
last update : 29-05-2010
Symbol SPSMA
Location 12q24.11
Name amyotrophy, neurogenic scapuloperoneal, New England type
Other name(s) scapuloperoneal spinal muscular dystrophy
Corresponding gene TRPV4
Other symbol(s) SPMD, DSMA2, SPSMA
Main clinical features
  • congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and amyotrophy
  • progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and developmental abnormalities of the bones
  • at biopsy, severe muscle fiber–type grouping and atrophy, extensive fatty replacement, increased endomysial fibrosis, marked variability of fiber size
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease