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- W3064326619 abstract "Abstract Background The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. Methods An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). Findings Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. Conclusions The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients." @default.
- W3064326619 created "2020-08-24" @default.
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- W3064326619 date "2020-08-19" @default.
- W3064326619 modified "2023-10-17" @default.
- W3064326619 title "A 5-year clinical follow-up study from the Italian National Registry for FSHD" @default.
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- W3064326619 doi "https://doi.org/10.1007/s00415-020-10144-7" @default.
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