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Facioscapulohumeral muscular dystrophy.

Rabi Tawil1, Silvère M Van Der Maarel

  • 1University of Rochester Medical Center, Neuromuscular Disease Center, P.O. Box 673, 601 Elmwood Avenue, Rochester, New York 14642, USA. Rabi_Tawil@URMC.Rochester.edu

Muscle & Nerve
|March 2, 2006
PubMed
Summary

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness. While the exact gene remains elusive, epigenetic dysregulation of the D4Z4 region on chromosome 4 is implicated.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is an inherited neuromuscular disorder.
  • Characterized by progressive muscle weakness, initially affecting facial, scapular, and leg muscles.
  • Significant variability in onset, severity, and progression exists among patients.

Purpose of the Study:

  • To review the current understanding of FSHD pathophysiology.
  • To explore the genetic and epigenetic mechanisms underlying FSHD.
  • To discuss the implications for therapeutic interventions and clinical trial design.

Main Methods:

  • Review of existing literature on FSHD genetics and molecular mechanisms.
  • Analysis of evidence implicating D4Z4 region deletions and epigenetic alterations.

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  • Examination of data from clinical trials and natural history studies.

    • Main Results:

    • FSHD is predominantly caused by heterozygous partial deletion of the D4Z4 elements on chromosome 4q35.
    • Epigenetic mechanisms, including altered DNA methylation and chromatin changes, are strongly implicated.
    • No causal gene has been definitively identified, suggesting a complex genetic and epigenetic interplay.
    • Non-skeletal manifestations like hearing loss and retinal telangiectasias can occur.

    Conclusions:

    • Understanding FSHD's complex pathophysiology, particularly epigenetic factors, is crucial for developing effective treatments.
    • Clinical trials have advanced outcome measure definitions for FSHD and other muscular dystrophies.
    • Further research into the molecular basis of FSHD is needed to guide targeted therapeutic strategies.