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Gundikeri, SK
- Fascioscapulohumeral Muscular Dystrophy- A Case Report
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Authors
Affiliations
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
Source
International Journal of Contemporary Medicine, Vol 1, No 2 (2013), Pagination: 15-17Abstract
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.Keywords
Fascioscapulohumeral, Muscular Dystrophy, Electro Diagnostic Testing.
References
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