Facioscapulohumeral Dystrophy

Overview

Journal Curr Neurol Neurosci Rep

Specialty Neurology

Date 2016 May 25

PMID 27215221

Citations 63

Authors

Leo H Wang

Rabi Tawil

Affiliations

Soon will be listed here.

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.

Citing Articles

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Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with FSHD.

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