Key result
Atypical FSHD onset occurs in ~28% of patients, appearing more frequent than expected.
Why the study?
The frequency of atypical presentations at onset in FacioScapuloHumeral Muscular Dystrophy (FSHD) had not been defined.
Population
122 symptomatic subjects from 76 unrelated families with genetically confirmed FSHD
Comparison
Typical shoulder-girdle or facial weakness onset vs atypical onset presentations
Design
Observational case series
Authors
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Atypical FSHD onset may warrant broader differential consideration; leaves open precise prevalence and diagnostic implications pending larger cohorts.
Observational (n=122)
Absolute Event Rate: 28% vs 72%
Atypical onset of FSHD, such as foot drop or lower limb proximal weakness, occurs in about 20% of patients and should be recognized as part of the disease spectrum.
Pastorello et al. (2011) conducted an observational in FacioScapuloHumeral Muscular Dystrophy (FSHD) (n=122). Atypical clinical presentation vs. Typical presentation was evaluated on Occurrence rate of FSHD with atypical onset. Atypical onset of FacioScapuloHumeral Muscular Dystrophy, such as foot drop (13%) or proximal lower limb weakness (7%), occurred in 28% of patients, appearing more frequent than expected.
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