Catalog

Facioscapulohumeral form of spinal muscular atrophy

No MMS code

Link to WHO Definition

Facioscapulohumeral form of spinal muscular atrophy – http://id.who.int/icd/entity/802327037

A mother and daughter with early adult-onset of slowly progressive face and pectoral girdle weakness were reported. Electromyography and muscle biopsy suggested a neurogenic cause, differentiating the disorder from fascioscapulohumeral muscular dystrophy. The specific genetic abnormality causing the disorder remains unknown.