Review Article


, Volume 5, Issue 4, pp 601-606

First online:

Facioscapulohumeral muscular dystrophy

  • Rabi TawilAffiliated withNeuromuscular Disease Center, University of Rochester Medical Center Email author 

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Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions. The genetic defect is a loss of a critical number of a repetitive element (D4Z4) in the 4q subtelomeric region. The loss of the repeats results in specific changes in chromatin structure, although neither the molecular nor the cellular consequences of this change are known. Nevertheless, these epigenetic changes in chromatin structure offer a potential therapeutic target. This review discusses current management strategies in FSHD as well as potential therapeutic interventions to slow down or reverse the progressive muscle atrophy and weakness.

Key Words

FSHD facioscapulohumeral muscular dystrophy muscular dystrophy myostatin chromosome 4