Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (526 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A heterogeneous group of inherited myopathies, characterized by wasting and weakness of the skeletal muscle. They are categorized by the sites of muscle weakness; AGE OF onset; and inheritance patterns.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Muscular Dystrophy; Dystrophies, Muscular; Dystrophy, Muscular; Myodystrophica; Myodystrophicas; Myodystrophy; Myodystrophies.
Where it fits in the MeSH classification
- Broader topics
- Muscular Disorders, Atrophic; Genetic Diseases, Inborn
- Narrower topics
- Distal Myopathies; Glycogen Storage Disease Type VII; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Duchenne; Muscular Dystrophy, Emery-Dreifuss; Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophy, Oculopharyngeal; Myotonic Dystrophy; Walker-Warburg Syndrome
- See also
- Mice, Inbred mdx
Related concepts
- Myopathies
- Skeletal Muscle
- Muscle Weakness
- Onset
- Inheritance Patterns
Research landscape
PubMed indexes 32,626 records tagged with the MeSH heading “Muscular Dystrophies” (counts retrieved 2026-10-29). 5,956 of them (18.3%) were published from 2020 onward, and the busiest period so far is through 1999 with 13,192 records.
Reviews account for 4,136 records (12.7%) and meta-analyses for 81. Randomized controlled trials number 285 (0.9%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 13,192 |
| 2000-2009 | 5,325 |
| 2010-2019 | 8,153 |
| 2020 onward | 5,956 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 4,136 | 12.7% |
| Meta-analyses | 81 | 0.2% |
| Randomized controlled trials | 285 | 0.9% |
Method: PubMed query "Muscular Dystrophies"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy | 2026 | Research article Design not recorded in structured metadata | 9 | cc by PMID 41703050 · DOI · PMC12987736 |
| VBIT-4 Rescues Mitochondrial Dysfunction and Reduces Skeletal Muscle Degeneration in a Severe Model of Duchenne Muscular Dystrophy | 2025 | Research article Design not recorded in structured metadata | 9 | cc by PMID 41009414 · DOI · PMC12469774 |
| Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy | 2026 | Research article Design not recorded in structured metadata | 6 | cc by PMID 41510809 · DOI · PMC13158228 |
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy [1]
Abstract reading summary — source excerpts
- Opening excerpt
- A total of 3-6% human genome is composed of microsatellite sequences, which are short DNA elements composed of two to six nucleotide motifs repeated in tandem.
- Closing excerpt
- Overall, this work highlights the complexity and richness of the human genome and the importance of mutations in yet-unrecognized small ORFs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (171 words)
A total of 3-6% human genome is composed of microsatellite sequences, which are short DNA elements composed of two to six nucleotide motifs repeated in tandem. Expansion of a subset of these microsatellites is the leading cause of >60 diseases. However, most of these mutations are located in sequences annotated as noncoding, which raises questions about their pathogenicity. Here we found that GGC repeat expansions causing oculopharyngodistal myopathy with or without oculopharyngeal myopathy leukoencephalopathy are located within previously unrecognized open reading frames (ORFs), resulting in their translation into new polyglycine-containing proteins. Antibodies developed against these proteins stain the p62-positive inclusions typical of these diseases. Moreover, expression of these polyglycine proteins causes locomotor and skeletal muscle alterations associated with neurodegeneration in cell, fly and mouse models. Finally, we identified a compound, the cationic porphyrin TMPyP4, targeting the expression of these polyglycine proteins, raising hope to develop a therapy for these disorders. Overall, this work highlights the complexity and richness of the human genome and the importance of mutations in yet-unrecognized small ORFs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41703050 · DOI · PMC12987736
VBIT-4 Rescues Mitochondrial Dysfunction and Reduces Skeletal Muscle Degeneration in a Severe Model of Duchenne Muscular Dystrophy [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by mutations in the DMD gene, leading to progressive muscle degeneration and fibrosis.
- Closing excerpt
- These findings underscore VDAC as a promising target for severe DMD and highlight the critical role of mitochondrial calcium homeostasis in DMD progression.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (176 words)
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by mutations in the DMD gene, leading to progressive muscle degeneration and fibrosis. A key pathological feature of DMD is mitochondrial dysfunction driven by calcium overload, which disrupts oxidative phosphorylation and triggers cell death pathways. This study shows the therapeutic potential of VBIT-4, a novel inhibitor of the mitochondrial voltage-dependent anion channel (VDAC), in two dystrophin-deficient mouse models: the mild mdx and the severe D2.DMDel8-34 strains. VBIT-4 administration (20 mg/kg) reduced mitochondrial calcium overload, enhanced resistance to permeability transition pore induction, and improved mitochondrial ultrastructure in D2.DMDel8-34 mice, while showing negligible effects in mdx mice. VBIT-4 suppressed mitochondrial and total calpain activity and reduced endoplasmic reticulum stress markers, suggesting a role in mitigating proteotoxic stress. However, it did not restore oxidative phosphorylation or reduce oxidative stress. Functional assays revealed limited improvements in muscle strength and fibrosis reduction, exclusively in the severe model. These findings underscore VDAC as a promising target for severe DMD and highlight the critical role of mitochondrial calcium homeostasis in DMD progression.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41009414 · DOI · PMC12469774
Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Facioscapulohumeral muscular dystrophy (FSHD) is caused by aberrant expression of the double homeobox transcription factor DUX4 in skeletal muscle.
- Closing excerpt
- These findings suggest that plasma KHDC1L is a potential pharmacodynamic marker of DUX4 activity, providing a minimally invasive tool for disease monitoring and a potential response marker to evaluate emerging FSHD therapies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (179 words)
Facioscapulohumeral muscular dystrophy (FSHD) is caused by aberrant expression of the double homeobox transcription factor DUX4 in skeletal muscle. Because direct measurement of DUX4 in FSHD muscle is technically challenging, DUX4-regulated transcripts in muscle biopsies have been used as surrogates; however, this approach is invasive, limited to a single muscle, and less suitable for repeated monitoring. Thus, we sought to identify DUX4-regulated circulating biomarkers that could integrate DUX4 activity across all affected muscles and enable more frequent measurement. We performed mass spectrometry on conditioned media from DUX4-inducible immortalized human myoblasts (MB135iDUX4) and identified a top candidate-KHDC1L, the protein product of a DUX4-regulated mRNA previously shown to correlate with DUX4 expression in muscle. Western blotting confirmed KHDC1L release into the supernatant of DUX4-expressing cells. Plasma profiling demonstrated elevated KHDC1L levels in individuals with FSHD compared to healthy controls, supporting its role as a circulating readout of DUX4 activity. These findings suggest that plasma KHDC1L is a potential pharmacodynamic marker of DUX4 activity, providing a minimally invasive tool for disease monitoring and a potential response marker to evaluate emerging FSHD therapies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41510809 · DOI · PMC13158228
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis [4]
- Research article Corticosteroids for the treatment of Duchenne muscular dystrophy [5]
- Research article Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis [6]
- Research article Lethal immunotoxicity in high-dose systemic AAV therapy [7]
- Research article Delandistrogene Moxeparvovec: First Approval [8]
- Research article Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis [9]
References
- Boivin M, Yu J, Eura N, Schmitt L, Pietri D, Grandgirard E, et al.. GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy. . 2026. PMID 41703050 · DOI · PMC12987736
- Dubinin MV, Stepanova AE, Mikheeva IB, Igoshkina AD, Kraeva EN, Cherepanova AA, et al.. VBIT-4 Rescues Mitochondrial Dysfunction and Reduces Skeletal Muscle Degeneration in a Severe Model of Duchenne Muscular Dystrophy. . 2025. PMID 41009414 · DOI · PMC12469774
- Sutliff NA, Chao E, Bennett SR, Nip Y, Lakhdari O, Canton DA, et al.. Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy. . 2026. PMID 41510809 · DOI · PMC13158228
- Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis. 2020. PMID 32503598 · DOI · PMC7275323
- Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2016. PMID 27149418 · DOI · PMC8580515
- Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmüller H. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. 2020. PMID 32107739 · DOI · PMC7387367
- Duan D. Lethal immunotoxicity in high-dose systemic AAV therapy. Mol Ther. 2023. PMID 37822079 · DOI · PMC10638066
- Hoy SM. Delandistrogene Moxeparvovec: First Approval. Drugs. 2023. PMID 37566211 · DOI
- Broomfield J, Hill M, Guglieri M, Crowther M, Abrams K. Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis. Neurology. 2021. PMID 34645707 · DOI · PMC8665435
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.