Genetic Testing For Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease that typically presents before the age of 20 years with the weakness of the facial muscles and the scapular stabilizer muscles. The usual clinical course is a slowly progressive weakness, although the severity is highly variable, and atypical presentations occur. Genetic testing for FSHD has been evaluated as a tool to confirm the diagnosis.