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Facioscapulohumeral Dystrophy: Case Report and Discussion

  • Electrodiagnostic Corner
  • Published:
HSS Journal

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.

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Authors and Affiliations

  1. Department of Physiatry, Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA

    Vincenzo Castellano MD & Joseph Feinberg MD, MS

  2. Neurological Institute of New Jersey, University of Medicine and Dentistry of New Jersey, 90 Bergen Street, Newark, NJ, 07103, USA

    Jennifer Michaels MD

Authors
  1. Vincenzo Castellano MD
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  2. Joseph Feinberg MD, MS
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  3. Jennifer Michaels MD
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Corresponding author

Correspondence to Vincenzo Castellano MD.

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Castellano, V., Feinberg, J. & Michaels, J. Facioscapulohumeral Dystrophy: Case Report and Discussion. HSS Jrnl 4, 175–179 (2008). https://doi.org/10.1007/s11420-008-9078-3

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  • DOI: https://doi.org/10.1007/s11420-008-9078-3

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