Catalog

Scapuloperoneal form of spinal muscular atrophy

No MMS code

Link to WHO Definition

Scapuloperoneal form of spinal muscular atrophy – http://id.who.int/icd/entity/223435672

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).