Spotlight on Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited, clinically recognizable, and relatively common muscular dystrophy. It does not curtail longevity much, but about 20% of patients use a wheelchair after the age of 50 years. The differential diagnosis is confined to few other conditions, including some limb-girdle dystrophies, a neurogenic form, a scapuloperoneal myopathy, and rare mitochondrial myopathies. The molecular genetic mechanism of FSHD has, until recently, remained enigmatic.

In this article, Dr. Rabi Tawil of the University of Rochester School of Medicine and Dentistry and Dr. Leo Wang of the University of Washington School of Medicine explain the recent breakthroughs in our understanding of the molecular mechanism underlying FSHD. To date, there is no effective medical treatment, but many affected people continue to work.

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