Dataset Information

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

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 (?FSHD 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 (?FSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ?FSHD 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 ?FSHD score (0.6) p?ConclusionsThe 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.

SUBMITTER: Vercelli L

PROVIDER: S-EPMC7815626 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

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

Vercelli Liliana L Mele Fabiano F Ruggiero Lucia L Sera Francesco F Tripodi Silvia S Ricci Giulia G Vallarola Antonio A Villa Luisa L Govi Monica M Maranda Louise L Di Muzio Antonio A Scarlato Marina M Bucci Elisabetta E Maggi Lorenzo L Rodolico Carmelo C Moggio Maurizio M Filosto Massimiliano M Antonini Giovanni G Previtali Stefano S Angelini Corrado C Berardinelli Angela A Pegoraro Elena E Siciliano Gabriele G Tomelleri Giuliano G Santoro Lucio L Mongini Tiziana T Tupler Rossella R

Journal of neurology 20200819 1

<h4>Background</h4>The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.<h4>Methods</h4>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).<h4>Findings</h4>Diseas ...[more]

PMID: 32813049

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Dataset Information

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

Background

Methods

Findings

Publications

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

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