Department of Molecular Cell and Cancer Biology; Li Weibo Institute for Rare Diseases Research; Department of Population and Quantitative Health Sciences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Musculoskeletal Diseases | Nervous System Diseases | Neurology
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 (DeltaFSHD 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 (DeltaFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest DeltaFSHD 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 DeltaFSHD 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.
Clinical categories, D4Z4 reduced allele, FSHD, Follow-up
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DOI of Published Version
Vercelli L, Mele F, Ruggiero L, Sera F, Tripodi S, Ricci G, Vallarola A, Villa L, Govi M, Maranda L, Di Muzio A, Scarlato M, Bucci E, Maggi L, Rodolico C, Moggio M, Filosto M, Antonini G, Previtali S, Angelini C, Berardinelli A, Pegoraro E, Siciliano G, Tomelleri G, Santoro L, Mongini T, Tupler R. A 5-year clinical follow-up study from the Italian National Registry for FSHD. J Neurol. 2021 Jan;268(1):356-366. doi: 10.1007/s00415-020-10144-7. Epub 2020 Aug 19. PMID: 32813049; PMCID: PMC7815626. Link to article on publisher's site
Journal of neurology
Vercelli L, Maranda L, Mongini T, Tupler RG. (2021). A 5-year clinical follow-up study from the Italian National Registry for FSHD. Open Access Publications by UMMS Authors. https://doi.org/10.1007/s00415-020-10144-7. Retrieved from https://escholarship.umassmed.edu/oapubs/4551
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.