Observational studyBMC musculoskeletal disorders2021
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.
Observational study in BMC musculoskeletal disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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.
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
- Effect of creatine monohydrate on motor function in children with facioscapulohumeral muscular dystrophy: A multicenter, randomized, double-blind placebo-controlled crossover trial.Pharmacotherapy · 2025Trial
- Combined qualitative and quantitative MRI reveals short-term progression in facioscapulohumeral muscular dystrophy.Journal of neuromuscular diseases · 2026Article
- High-load resistance training and FSHD: harmful mixture or a silver bullet combination?Journal of neurology · 2026Review
- KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity.Genes & development · 2026Article
- Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD.Annals of clinical and translational neurology · 2026Article
- Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy.Human molecular genetics · 2026Article
- Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases.NMR in biomedicine · 2025Article
- Multi-scale machine learning model predicts muscle and functional disease progression.Scientific reports · 2025Article
- Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.Journal of neurology · 2025Article
- Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.Cold Spring Harbor perspectives in biology · 2025Review
- Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.Journal of neuromuscular diseases · 2025Article
- Feasibility and Reproducibility of Isokinetic Dynamometry in Children with Neuromuscular Diseases.Journal of clinical medicine · 2024Article
- Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study.Journal of neurology · 2024Observational
- AI driven analysis of MRI to measure health and disease progression in FSHD.Scientific reports · 2024Article
- Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.Human molecular genetics · 2024Article
- Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy.Neuromuscular disorders : NMD · 2023Article
- Five-year follow-up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome.Journal of cachexia, sarcopenia and muscle · 2023Article
- Computed tomography derived cervical fat-free muscle fraction as an imaging-based outcome marker in patients with acute ischemic stroke: a pilot study.BMC neurology · 2023Article
- Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy.Communications medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundFacioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals (~ 1 year). We hypothesized that fatty change over the study course would be most likely in muscles already demonstrating disease progression, and that the degree of MRI burden would be correlated with function.
methodsWe studied 36 patients with FSHD and lower-extremity weakness at baseline. Thirty-two patients returned in our 12-month longitudinal observational study. We analyzed DIXON MRI images of 16 lower-extremity muscles in each patient and compared them to quantitative strength measurement and ambulatory functional outcome measures.
resultsThere was a small shift to higher fat fractions in the summed muscle data for each patient, however individual muscles demonstrated much larger magnitudes of change. The greatest increase in fat fraction was observed in muscles having an intermediate fat replacement at baseline, with minimally (baseline fat fraction < 0.10) or severely (> 0.70) affected muscles less likely to progress. Functional outcome measures did not demonstrate marked change over the interval; however, overall MRI disease burden was correlated with functional outcome measures. Direct comparison of the tibialis anterior (TA) fat fraction and quantitative strength measurement showed a sigmoidal relationship, with steepest drop being when the muscle gets more than ~ 20% fatty replaced.
conclusionsAssessing MRI changes in 16 lower-extremity muscles across 1 year demonstrated that those muscles having an intermediate baseline fat fraction were more likely to progress. Ambulatory functional outcome measures are generally related to overall muscle MRI burden but remain unchanged in the short term. Quantitative strength measurement of the TA showed a steep loss of strength when more fatty infiltration is present suggesting that MRI may be preferable for following incremental change or modulation with drug therapy.
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