Abstract

Facioscapulohumeral dystrophy (FSHD) is the third most common muscular dystrophy (after myotonic and Becker/Duchenne muscular dystrophies). It is present world-wide. Males and females are equally affected. Presentation occurs at any age, but typically features are present by the age of 20, although they may be unnoticed or dismissed by the patient. Progression is relatively slow, and lifespan typically not affected. About one-fifth of patients may require a wheelchair at some stage (Orrell & Griggs 2003).

FSHD presents with weakness predominantly in muscles of the face, shoulder girdle and upper arms (Figs 1 and 2). Weakness may also affect the peroneal muscles in the legs, and more generally. The muscle weakness and wasting may be selective and asymmetrical. Diagnosis is usually made on the clinical presentation. However, weakness of eye and mouth closure may be mild, and missed, and the diagnosis not made or considered.

It is now possible to make