Observational studyJournal of neurology2021
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
Observational study in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- The Russian FSHD registry: a first look at the cohort.Human genetics · 2026Article
- DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD).Human genomics · 2026Article
- Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.Annals of clinical and translational neurology · 2026Article
- 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
- The recent clinical trial of losmapimod for the treatment of facioscapulohumeral muscular dystrophy.Neuromuscular disorders : NMD · 2025Review
- Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.Clinical epigenetics · 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
- Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study.Neurology · 2025Article
- Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.BMC musculoskeletal disorders · 2024Article
- Association of 4qA-Specific Distal D4Z4 Hypomethylation With Disease Severity and Progression in Facioscapulohumeral Muscular Dystrophy.Neurology · 2023Observational
- Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.Health science reports · 2022Article
- Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.Orphanet journal of rare diseases · 2022Article
- Review
- Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.Scientific reports · 2022Article
- The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.Orphanet journal of rare diseases · 2021Article
- Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients.Orphanet journal of rare diseases · 2021Review
- Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.Orphanet journal of rare diseases · 2021Review
- Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases.Frontiers in physiology · 2021Article
- Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
27 authors at 13 institutions in 3 countries.
Funding
Abstract
backgroundThe natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.
methodsAn 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).
findingsDisease 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.
conclusionsThe 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.
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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.