Facioscapulohumeral muscular dystrophy

Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Clinically, both FSHD types often show asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms followed by the distal then proximal lower extremities. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on chromosome 4q35. The remaining 5%, termed FSHD2, have no deletion on chromosome 4q35. Nevertheless, both types share a common downstream mechanism, making it possible for future disease-directed therapies to be effective for both FSHD types.

Keywords: D4Z4 deletion; DUX4; Facioscapulohumeral muscular dystrophy; Muscular dystrophy; SMCHD1 mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Gene Deletion
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral / diagnosis*
  • Muscular Dystrophy, Facioscapulohumeral / genetics*

Supplementary concepts

  • Facioscapulohumeral Muscular Dystrophy 1B
  • Facioscapulohumeral muscular dystrophy 1a