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Facioscapulohumeral Dystrophy: Case Report and Discussion

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.

This Article appears in HSS Journal: Volume 4, Number 2.
View the full article at springerlink.com.

About the HSS Journal
HSS Journal, an academic peer-reviewed journal, is published twice a year, February and September, and features articles by internal faculty and HSS alumni that present current research and clinical work in the field of musculoskeletal medicine performed at HSS, including research articles, surgical procedures, and case reports.


Vincenzo Castellano, MD
Department of Physiatry, Hospital for Special Surgery

Joseph Feinberg, MD, MS
Department of Physiatry, Hospital for Special Surgery

Jennifer Michaels, MD
Neurological Institute of New Jersey, University of Medicine and Dentistry of New Jersey


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