A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Francesco Sera, Ana Nikolic, Monica Govi, Fabiano Mele, Jessica Daolio, Corrado Angelini, Giovanni Antonini, Angela Berardinelli, Elisabetta Bucci, Michelangelo Cao, Maria Chiara D’Amico, Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Lorenzo Maggi, Maurizio Moggio, Tiziana Mongini & 8 others Lucia Morandi, Elena Pegoraro, Carmelo Rodolico, Lucio Santoro, Gabriele Siciliano, Giuliano Tomelleri, Luisa Villa, Rossella Tupler

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1–A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 % CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 % CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 % CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.

Original languageEnglish
Pages (from-to)1-11
Number of pages11
JournalJournal of Neurology
DOIs
Publication statusAccepted/In press - Apr 28 2016

Fingerprint

Facioscapulohumeral Muscular Dystrophy
Phenotype
Muscle Weakness
Facial Muscles
Genetic Counseling
Natural History
Patient Selection
Healthy Volunteers
Randomized Controlled Trials

Keywords

  • Clinical phenotype
  • Diagnostic criteria
  • Disease classification
  • Disease registry
  • FSHD

ASJC Scopus subject areas

  • Neurology

Cite this

Ricci, G., Ruggiero, L., Vercelli, L., Sera, F., Nikolic, A., Govi, M., ... Tupler, R. (Accepted/In press). A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. Journal of Neurology, 1-11. https://doi.org/10.1007/s00415-016-8123-2

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. / Ricci, Giulia; Ruggiero, Lucia; Vercelli, Liliana; Sera, Francesco; Nikolic, Ana; Govi, Monica; Mele, Fabiano; Daolio, Jessica; Angelini, Corrado; Antonini, Giovanni; Berardinelli, Angela; Bucci, Elisabetta; Cao, Michelangelo; D’Amico, Maria Chiara; D’Angelo, Grazia; Di Muzio, Antonio; Filosto, Massimiliano; Maggi, Lorenzo; Moggio, Maurizio; Mongini, Tiziana; Morandi, Lucia; Pegoraro, Elena; Rodolico, Carmelo; Santoro, Lucio; Siciliano, Gabriele; Tomelleri, Giuliano; Villa, Luisa; Tupler, Rossella.

In: Journal of Neurology, 28.04.2016, p. 1-11.

Research output: Contribution to journalArticle

Ricci, G, Ruggiero, L, Vercelli, L, Sera, F, Nikolic, A, Govi, M, Mele, F, Daolio, J, Angelini, C, Antonini, G, Berardinelli, A, Bucci, E, Cao, M, D’Amico, MC, D’Angelo, G, Di Muzio, A, Filosto, M, Maggi, L, Moggio, M, Mongini, T, Morandi, L, Pegoraro, E, Rodolico, C, Santoro, L, Siciliano, G, Tomelleri, G, Villa, L & Tupler, R 2016, 'A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes', Journal of Neurology, pp. 1-11. https://doi.org/10.1007/s00415-016-8123-2
Ricci, Giulia ; Ruggiero, Lucia ; Vercelli, Liliana ; Sera, Francesco ; Nikolic, Ana ; Govi, Monica ; Mele, Fabiano ; Daolio, Jessica ; Angelini, Corrado ; Antonini, Giovanni ; Berardinelli, Angela ; Bucci, Elisabetta ; Cao, Michelangelo ; D’Amico, Maria Chiara ; D’Angelo, Grazia ; Di Muzio, Antonio ; Filosto, Massimiliano ; Maggi, Lorenzo ; Moggio, Maurizio ; Mongini, Tiziana ; Morandi, Lucia ; Pegoraro, Elena ; Rodolico, Carmelo ; Santoro, Lucio ; Siciliano, Gabriele ; Tomelleri, Giuliano ; Villa, Luisa ; Tupler, Rossella. / A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. In: Journal of Neurology. 2016 ; pp. 1-11.
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AU - Mele, Fabiano

AU - Daolio, Jessica

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AU - Moggio, Maurizio

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AU - Morandi, Lucia

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AU - Rodolico, Carmelo

AU - Santoro, Lucio

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