Facioscapulohumeral muscular dystrophy is also known as Landouzy-Dejerine muscular dystrophy. -ed
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. The differential diagnosis is confined to few other conditions, including a neurogenic form, a scapuloperoneal myopathy, and rare mitochondrial myopathies. The molecular genetic mechanism of FSHD has, until recently, remained enigmatic. Dr. Tawil of the University of Rochester explains the recent breakthroughs in our understanding of the molecular mechanism underlying FSHD. To date, medical treatment is not effective, but many affected people continue to work.