Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant type of muscular dystrophy that initially affects muscles of the face (facio), shoulders (scapulo), and upper arms (humeral). A progressive weakening of these skeletal muscles is the hallmark of FSHD, and eventually the degeneration of muscle tissue can spread to the back, legs, and other areas as well. Symptoms may develop in early childhood and are usually noticeable in the teenage years with 95% of affected individuals manifesting disease by age 20. In serious cases, affected individuals become severely disabled and eventually must use a wheelchair. Some of those affected by FSHD are unable to lift their arms for more than a few seconds, and some lose the ability to show any facial expressions and experience serious speech impediments. While FSHD is still very poorly understood, other symptoms can include hearing loss, vision impairment, and abnormal heart rhythms.

At present, FSHD is estimated to affect 7 out of every 100,000 people, or over 21,000 Americans (almost a half million people worldwide), and is the most common form of muscular dystrophy. But the actual prevalence of the disease is likely higher since FSHD is very often misdiagnosed. Approximately two-thirds of cases are inherited, while up to a third of case seem to be the result of spontaneous mutation.

Perhaps more disturbing than what is known about FSHD is what is unknown. The pathophysiology of FSHD is still unknown, and in general a great deal of uncertainty exists given how variable the disease seems to be. Some progress has been made in determining relevant genetic factors, though little is known as to how those factors develop or what the mechanism of their effect is. Perhaps most importantly, no treatments are available at this time, though a few potential treatments are currently being researched.

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