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Facioscapulohumeral Muscular Dystrophy

  1. Tawil Rabi1,
  2. Van der Maarel Silvere2

Published Online: 15 APR 2011

DOI: 10.1002/9780470015902.a0021439



How to Cite

Rabi, T. and Van der Maarel, S. 2011. Facioscapulohumeral Muscular Dystrophy. eLS. .

Author Information

  1. 1

    University of Rochester Medical Center, Rochester, New York, USA

  2. 2

    Leiden University Medical Center, The Netherlands

Publication History

  1. Published Online: 15 APR 2011


Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited, muscle disease with a distinctive clinical presentation and a wide spectrum of disease severity. In greater than 95% of individuals with FSHD, the genetic defect is a loss of a critical number of D4Z4 macrosatellite repeats on chromosome 4q35. However, D4Z4 contractions are only pathogenic on specific, permissive chromosomal backgrounds. Recent evidence demonstrates that this permissive background facilitates the stable transcription of DUX4, a retrogene sequence within D4Z4 that codes for a double homeodomain protein of unknown function. These findings implicate DUX4 in the pathophysiology of FSHD and for the first time, offer a target for therapeutic development in FSHD.

Key Concepts:

  • Epigenetic modifications can lead to gene derepression.

  • FSHD results from reactivation of a retrogene.


  • FSHD;
  • facioscapulohumeral muscular dystrophy;
  • muscular dystrophy;
  • chromosome 4;
  • myostatin;
  • DUX4