Catalog

Autosomal dominant proximal spinal muscular atrophy, adult-onset

No MMS code

Link to WHO Definition

Autosomal dominant proximal spinal muscular atrophy, adult-onset – http://id.who.int/icd/entity/718043342

Autosomal dominant proximal spinal muscular atrophy typically presents in the 5th decade with weakness and atrophy of proximal limb muscles, depressed deep tendon reflexes and normal sensory and bulbar function. It is caused by a mutation in the Vesicle-Trafficking Protein gene (VAFB, 20q13.32).