Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)