ArticleJournal of neurology2016
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
Article in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 56 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
USEFUL: User-centred Assistive SystEm for Arm Functions in neUromuscuLar Subjects
Amino Acid Supplementation and Physical Exercise in Facioscapulohumeral Muscular Dystrophy: Effects on Body Composition and Physical Efficiency in a Model of Muscular Disease
Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Co-Occurrence of Facioscapulohumeral Muscular Dystrophy and Myasthenia Gravis: A Systematic Review and Meta-Analysis of Individual Patient Data.European journal of neurology · 2026Pooled it
- FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.Human molecular genetics · 2024Pooled it
- Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy.Muscle & nerve · 2026Article
- Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound.Muscle & nerve · 2026Article
- Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy.Annals of clinical and translational neurology · 2026Article
- Physical exercise in facioscapulohumeral muscular dystrophy: state of the art and future challenges beyond common misconceptions.European journal of applied physiology · 2026Review
- The Russian FSHD registry: a first look at the cohort.Human genetics · 2026Article
- Observational
- Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy.Scientific reports · 2025Article
- Unraveling the link between resting metabolic rate and phase angle in facioscapulohumeral dystrophy: a comparative and associative analysis.European journal of applied physiology · 2025Article
- Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy.Journal of human genetics · 2025Review
- Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.Orphanet journal of rare diseases · 2025Article
- Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.European journal of human genetics : EJHG · 2025Article
- Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis.Nucleic acids research · 2025Article
- Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now?Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy.European journal of applied physiology · 2025Article
- Effects of a Combined Nutritional and Physical Training Program Approach in a Case of Facioscapulohumeral Dystrophy: A One-Year Follow-Up.Case reports in medicine · 2025Article
- Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study.Health science reports · 2025Article
- Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.Antioxidants (Basel, Switzerland) · 2024Article
Corrections and comments
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Authors and funding
28 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.