Facioscapulohumeral Dystrophy

Constantine Farmakidis, Rabi Tawil

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disease with a distinctive clinical presentation. It presents initially with facial and scapular weakness, and progresses in a descending fashion to involve the lower extremities. Disease severity is extremely variable, with about 20%, of individuals becoming wheelchair dependent. Although no curative treatment for FSHD exists, recent discoveries of the underlying pathophysiology open the door for the development of targeted treatments.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders
PublisherWiley-Blackwell
Pages74-79
Number of pages6
ISBN (Print)0470654562, 9780470654569
DOIs
Publication statusPublished - Sep 6 2011

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Keywords

  • Conditions mimicking FSHD
  • Creatine kinase (CK) levels
  • FSHD extramuscular manifestations
  • FSHD, broad clinical spectrum of age
  • Facial and shoulder weakness
  • Facial weakness
  • Facioscapulohumeral dystrophy (FSHD) - autosomal neuromuscular disorder
  • Foot drop
  • Mild retinovascular abnormalities
  • Weak abdominal muscles

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Farmakidis, C., & Tawil, R. (2011). Facioscapulohumeral Dystrophy. In Neuromuscular Disorders (pp. 74-79). Wiley-Blackwell. https://doi.org/10.1002/9781119973331.ch9