Key result
Atypical presentations of genetically confirmed FSHD included monomelic lower limb (n=3) or upper limb (n=2) atrophy, or axial weakness (n=2), often with myopathic EMG changes.
Population
139 cases of facioscapulohumeral dystrophy from an academic center database, of which 7 had atypical…
Design
Case_series
Authors
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Atypical FSHD warrants inclusion in focal weakness differentials; case reports extend phenotypic spectrum but leave diagnostic algorithms open.
Observational (n=7)
No
FSHD can present atypically with focal weakness, dyspnea, and myopathic EMG changes, which should be recognized to ensure accurate diagnosis.
Hassan et al. (2012) conducted an observational in Facioscapulohumeral muscular dystrophy (FSHD) (n=7). Atypical presentation of FSHD was evaluated on Focal/unusual phenotypes. Atypical presentations of genetically confirmed FSHD included monomelic lower limb (n=3) or upper limb (n=2) atrophy, or axial weakness (n=2), often with myopathic EMG changes.
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