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A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
- Source :
- Journal of Neurology
- Publication Year :
- 2016
-
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. Electronic supplementary material The online version of this article (doi:10.1007/s00415-016-8123-2) contains supplementary material, which is available to authorized users.
- Subjects :
- Male
0301 basic medicine
Diagnostic criteria
Facioscapulohumeral
030105 genetics & heredity
0302 clinical medicine
Cohen's kappa
Clinical phenotype
Facioscapulohumeral muscular dystrophy
Muscular Dystrophy
Registries
Age of Onset
Neurologic Examination
Observer Variation
Original Communication
Middle Aged
Muscular Dystrophy, Facioscapulohumeral
Facial muscles
Phenotype
medicine.anatomical_structure
Italy
Neurology
Categorization
Disease classification
Disease registry
FSHD
Neurology (clinical)
Female
medicine.symptom
Adult
Aged
Family
Genetic Predisposition to Disease
Humans
Motor Activity
Muscle Strength
musculoskeletal diseases
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Genetic counseling
Concordance
Clinical Neurology
clinical phenotype
diagnostic criteria
disease classification
disease registry
neurology
03 medical and health sciences
Physical medicine and rehabilitation
Internal medicine
medicine
business.industry
Muscle weakness
medicine.disease
nervous system diseases
Age of onset
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 03405354
- Database :
- OpenAIRE
- Journal :
- Journal of Neurology
- Accession number :
- edsair.doi.dedup.....fc3010218411d55648760d042990e1c9