Catalog

Bulbospinal muscular atrophy

No MMS code

Link to WHO Definition

Bulbospinal muscular atrophy – http://id.who.int/icd/entity/1604214898

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterised by proximal and bulbar muscle wasting. Sensory neuropathy may also be present. Characteristic clinical signs include facial fasciculations, gynecomastia and testicular atrophy. The disease is caused by an expanded CAG repeat in the first exon of the AR gene (Xq12).