Preferred Label : Scapuloperoneal form of spinal muscular atrophy;
ICD-11 definition : Two families have been reported with autosomal dominant progressive scapuloperoneal
amyotrophy with unique clinical features, including congenital absence of muscles,
laryngeal palsy, and skeletal abnormalities. Variability of the clinical phenotype,
incomplete penetrance and the possibility of genetic anticipation have been reported.
The disorder is caused by mutation in the TRPV4 gene (chromosome 12q24.11).;
ICD-11 synonym : SPSMA - [Scapuloperoneal form of spinal muscular atrophy];
ICD-11 acronym : SPSMA;
Origin ID : 223435672;
Automatic exact mappings (from CISMeF team)
Two families have been reported with autosomal dominant progressive scapuloperoneal
amyotrophy with unique clinical features, including congenital absence of muscles,
laryngeal palsy, and skeletal abnormalities. Variability of the clinical phenotype,
incomplete penetrance and the possibility of genetic anticipation have been reported.
The disorder is caused by mutation in the TRPV4 gene (chromosome 12q24.11).
