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Review
. 2016 Jul;16(7):66.
doi: 10.1007/s11910-016-0667-0.

Facioscapulohumeral Dystrophy

Leo H Wang  1 , Rabi Tawil  2
Affiliations
Review

Facioscapulohumeral Dystrophy

Leo H Wang et al. Curr Neurol Neurosci Rep. 2016 Jul.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors. We review the history, epidemiology, clinical presentation, and genetics of the disease, present the recently elucidated molecular pathogenesis, discuss the pathology and the possible consequence of the inflammation seen in the muscle biopsies, and consider future treatments.

Keywords: DUX4; Facioscapulohumeral dystrophy; Genetics; Muscular dystrophy; SCHMD1.

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