Catalog

Autosomal dominant benign distal spinal muscular atrophy

No MMS code

Link to WHO Definition

Autosomal dominant benign distal spinal muscular atrophy – http://id.who.int/icd/entity/741190474

Patients with autosomal dominant benign distal spinal muscular atrophy present with lower motor neuron weakness of the lower limb. Weakness is congenital, and arthrogryposis may be observed, suggesting intrauterine onset. Severity of weakness varies within families. Weakness is typically non-progressive. The disease is caused by mutations in the TRPV4 gene (12q24.11).