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J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr 28.

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

Author information

1
Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
2
Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
3
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy.
4
Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy.
5
MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK.
6
IRCCS San Camillo, Venice, Italy.
7
Department of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome "Sapienza", Rome, Italy.
8
Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy.
9
Department of Neurosciences, University of Padua, Padua, Italy.
10
Center for Neuromuscular Disease, CeSI, University "G. D'Annunzio", Chieti, Italy.
11
Department of Neurorehabilitation, IRCCS Institute Eugenio Medea, Bosisio Parini, Italy.
12
Neurology Clinic, ''Spedali Civili'' Hospital, Brescia, Italy.
13
IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
14
Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan, Italy.
15
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
16
Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy.
17
Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. rossella.tupler@unimore.it.
18
Department of Molecular Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, USA. rossella.tupler@unimore.it.

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.

KEYWORDS:

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

PMID:
27126453
PMCID:
PMC4893383
DOI:
10.1007/s00415-016-8123-2
[Indexed for MEDLINE]
Free PMC Article

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