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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Facioscapulohumeral Muscular Dystrophy: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Mortality in facioscapulohumeral muscular dystrophy requires exclusion of mitochondrial and other neuromuscular differentials.
Matovu Daniel, Journal of the neurological sciences (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42526378/
- 2.
Image-based assessment of muscle contractile performance in facioscapulohumeral muscular dystrophy: protocol of the MUSCLE+ observational study in the Netherlands.
van Iersel Odette et al., BMJ open (13 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42869599/
- 3.
Comparability of self-reported and accelerometer-based physical activity assessment in patients with facioscapulohumeral muscular dystrophy
Oscar Crisafulli et al., BMC Musculoskeletal Disorders (12 October 2026)
https://doi.org/10.1186/s12891-026-10599-1
- 4.
Decoding common and complex genotypes of facioscapulohumeral muscular dystrophy using methylation profiling and long-read sequencing
Florentine Scharf et al., Brain Communications (9 October 2026)
https://doi.org/10.1093/braincomms/fcag370
- 5.
Cognitive and Behavioural Profiles of Children and Young People With Facioscapulohumeral Muscular Dystrophy: A Prospective Cohort Study
Louise M. Crowe et al., Journal of Child Neurology (9 October 2026)
https://doi.org/10.1177/08830738261489990
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
A Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of SFL-0821 in Adults With FSHD
NCT07798609 · Recruiting · Phase 1 / Phase 2 · Soufflé Therapeutics, Inc.
Ages 18 to 65
https://clinicaltrials.gov/study/NCT07798609
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, causing progressive weakness of the face, shoulders, and upper arms. It is caused by aberrant DUX4 gene expression. Severity varies greatly. Clinical trials targeting DUX4 are in progress and represent significant therapeutic hope.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Facioscapulohumeral Muscular Dystrophy?
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy, causing progressive weakness of the face, shoulders, and upper arms. It is caused by aberrant DUX4 gene expression. Severity varies greatly. Clinical trials targeting DUX4 are in progress and represent significant therapeutic hope.
How many clinical trials are available for Facioscapulohumeral Muscular Dystrophy?
RareWays currently indexes 39 clinical trials for Facioscapulohumeral Muscular Dystrophy, of which 7 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Facioscapulohumeral Muscular Dystrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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