Diagnostic challenges in facioscapulohumeral muscular dystrophy.
case_series · Level IV
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- Record sourced from PubMed, PMID 17060574.
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Abstract
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.
Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
Anatomy
- humerus