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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Facioscapulohumeral Dystrophy.

Leo H Wang1, Rabi Tawil2

  • 1Department of Neurology, University of Washington, 1959 NE Pacific St, Campus Box 356169, Seattle, WA, 98195, USA. leowang@uw.edu.

Current Neurology and Neuroscience Reports
|May 25, 2016
PubMed
Summary
This summary is machine-generated.

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disorder affecting muscles. This review covers its history, genetics, and emerging molecular insights, offering a comprehensive overview for understanding and treating FSHD.

Keywords:
DUX4Facioscapulohumeral dystrophyGeneticsMuscular dystrophySCHMD1

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent neuromuscular disorder.
  • It exhibits variable clinical manifestations influenced by genetic and epigenetic factors.
  • FSHD is primarily inherited in an autosomal dominant pattern or, less commonly, via a digenic mechanism.

Purpose of the Study:

  • To provide a comprehensive review of Facioscapulohumeral muscular dystrophy (FSHD).
  • To elucidate the molecular pathogenesis, pathology, and potential inflammatory consequences.
  • To discuss current understanding and future therapeutic strategies for FSHD.

Main Methods:

  • Literature review of historical, epidemiological, clinical, and genetic data.
  • Analysis of recent findings on molecular pathogenesis.
  • Discussion of muscle biopsy pathology and inflammation.

Main Results:

  • FSHD is a clinically distinct and common muscular dystrophy.
  • Molecular pathogenesis is increasingly understood, involving complex genetic and epigenetic interactions.
  • Inflammation in muscle biopsies may play a significant role in disease progression.

Conclusions:

  • FSHD presents a complex interplay of genetic and epigenetic factors.
  • Understanding molecular pathogenesis is key to developing effective treatments.
  • Future research should focus on targeted therapies addressing the underlying mechanisms of FSHD.