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Open Access 01-01-2021 | Original Communication

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

Authors: 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 Angelini, Angela Berardinelli, Elena Pegoraro, Gabriele Siciliano, Giuliano Tomelleri, Lucio Santoro, Tiziana Mongini, Rossella Tupler

Published in: Journal of Neurology | Issue 1/2021

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.

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Title: A 5-year clinical follow-up study from the Italian National Registry for FSHD
Authors: 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 Angelini
Angela Berardinelli
Elena Pegoraro
Gabriele Siciliano
Giuliano Tomelleri
Lucio Santoro
Tiziana Mongini
Rossella Tupler
Publication date: 01-01-2021
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 1/2021
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-10144-7

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Background

Methods

Findings

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Findings

Conclusions

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