scapuloperoneal spinal muscular atrophy


Also found in: Acronyms.

scapuloperoneal spinal muscular atrophy

A clinically variable neuromuscular disorder (OMIM:181405) characterised by neurogenic scapuloperoneal (girdle) amyotrophy, laryngeal paralysis, congenital absence of muscles, progressive girdle atrophy and progressive distal weakness and amyotrophy.

Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.