Facioscapulohumeral Muscular Dystrophy

Research Areas

The Facioscapulohumeral Muscular Dystrophy (FSHD) topic includes research on the genetics, diagnosis, and treatment of FSHD, a muscular dystrophy that initially affects the muscles of the face, shoulders, and upper arms. 

A genetic muscle disorder, FSHD is also known as Landouzy-Dejerine disease. While most people live a full life with FSHD, sometimes the severity of symptoms can cause serious respiratory complications or loss of mobility. FSHD typically proceeds slowly, but people experience rapid muscle degeneration in spurts. Treatment currently focuses on maintaining and supporting mobility, with research focused on potential gene or other targeted therapies.