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.

A 5-year clinical follow-up study from the Italian National Registry for FSHD / 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.. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 268:1(2021), pp. 356-368. [10.1007/s00415-020-10144-7]

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

Mele F.
Data Curation
;
Vallarola A.
Formal Analysis
;
Govi M.
Membro del Collaboration Group
;
Tupler R.
Conceptualization
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.
2021
19-ago-2020
268
1
356
368
A 5-year clinical follow-up study from the Italian National Registry for FSHD / 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.. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 268:1(2021), pp. 356-368. [10.1007/s00415-020-10144-7]
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.; B...espandi
File in questo prodotto:
File Dimensione Formato  
Vercelli2020_Article_A5-yearClinicalFollow-upStudyF.pdf

Open access

Descrizione: vercelli follow up
Tipologia: Versione pubblicata dall'editore
Dimensione 996.9 kB
Formato Adobe PDF
996.9 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1210535
Citazioni
  • ???jsp.display-item.citation.pmc??? 11
  • Scopus 13
  • ???jsp.display-item.citation.isi??? 13
social impact