Abstract
Fascioscapulohumeral dystrophy (FSHD) is the third most common form of muscular dystrophy. It should be considered in patients with complaints of progressive weakness. We present the case of a man with facial, arms and leg weakness. Clinically diagnosed as FSHD. Electro diagnostic testing revealed findings consistent with a myopathic disorder. Subsequent genetic testing identified a FSHD allele size consistent with a FSHD deletion mutation, thus 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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