A 5-year clinical follow-up study from the Italian National Registry for FSHD

Liliana Vercelli, Fabiano Mele, Lucia Ruggiero, Francesco Sera, Silvia Tripodi, Giulia Ricci, Antonio Vallarola, Luisa Villa, Monica Govi, Louise Maranda, Antonio Di Muzio, Marina Scarlato, Elisabetta Bucci, Lorenzo Maggi, Carmelo Rodolico, Maurizio Moggio, Massimiliano Filosto, Giovanni Antonini, Stefano Previtali, Corrado AngeliniAngela Berardinelli, Elena Pegoraro, Gabriele Siciliano, Giuliano Tomelleri, Lucio Santoro, Tiziana Mongini, Rossella Tupler

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)356-366
JournalJournal of Neurology
Issue number1
Publication statusPublished - 2021


  • Clinical categories
  • D4Z4 reduced allele
  • Follow-up
  • FSHD

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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