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Facioscapulohumeral Dystrophy

  • Nerve and Muscle (LH Weimer, Section Editor)
  • Published:
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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.

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Authors and Affiliations

  1. Department of Neurology, University of Washington, 1959 NE Pacific St, Campus Box 356169, Seattle, WA, 98195, USA

    Leo H. Wang

  2. Department of Neurology, University of Rochester, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA

    Rabi Tawil

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  1. Leo H. Wang
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Correspondence to Leo H. Wang.

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Leo H. Wang declares no conflict of interest.

Rabi Tawil has received grants from the NIH and the FSH Society, consultancy fees from aTyr Pharma and Acceleron, and personal fees from Novartis.

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Wang, L.H., Tawil, R. Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep 16, 66 (2016). https://doi.org/10.1007/s11910-016-0667-0

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