HSS Journal

, 4:175 | Cite as

Facioscapulohumeral Dystrophy: Case Report and Discussion

  • Vincenzo Castellano
  • Joseph Feinberg
  • Jennifer Michaels
Electrodiagnostic Corner

Abstract

Facioscapulohumeral dystrophy (FSHD) is often cited as the third most common form of muscular dystrophy. Therefore, it should be considered in patients with complaints of progressive weakness. We present the case of a man with facial, truncal, and leg weakness that initially sought medical attention for lower back pain. Electrodiagnostic testing revealed findings in the trapezius, serratus anterior, biceps, triceps, pectoralis major, tibialis anterior, and gastrocnemius muscles consistent with a myopathic disorder. Subsequent genetic testing identified a FSHD allele size consistent with a FSHD deletion mutation. Therefore, confirming the diagnosis of FSHD. Unfortunately, no effective treatments currently exist for FSHD. However, supportive measures involving physical therapy and the use of orthotics may aid in improving function and mobility.

Keywords

facioscapulohumeral dystrophy FSHD Landouzy–Dejerine disease muscular dystrophy telomeric deletion disease electrodiagnostic testing 

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Copyright information

© Hospital for Special Surgery 2008

Authors and Affiliations

  • Vincenzo Castellano
    • 1
  • Joseph Feinberg
    • 1
  • Jennifer Michaels
    • 2
  1. 1.Department of PhysiatryHospital for Special SurgeryNew YorkUSA
  2. 2.Neurological Institute of New JerseyUniversity of Medicine and Dentistry of New JerseyNewarkUSA

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