SynthesisOrphanet journal of rare diseases2020
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 279 papers, 5 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
279 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Transition to adulthood in Duchenne Muscular Dystrophy: a systematic review with narrative synthesis on health systems, policies, and the role of health care providers.Frontiers in public health · 2026Pooled it
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.PloS one · 2026Pooled it
- Global epidemiology of pheochromocytoma: a systematic review and meta-analysis of observational studies.Journal of endocrinological investigation · 2025Pooled it
- Meta-analysis of the efficacy and safety of vamorolone in Duchenne muscular dystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.PloS one · 2023Pooled it
- Vamorolone for Duchenne Muscular Dystrophy: A Cross-Trial Efficacy Comparison With Classic Corticosteroids From the FOR-DMD Trial.Neurology · 2026Trial
- Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.Cell reports. Medicine · 2025Trial
- Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.Neurology · 2024Trial
- Trial
- The NuroSleeve, a user-centered 3D printed hybrid orthosis for individuals with upper extremity impairment.Journal of neuroengineering and rehabilitation · 2023Trial
- Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status.Journal of comparative effectiveness research · 2023Trial
- FDA-approved antisense oligonucleotide therapies for duchenne muscular dystrophy: current status and future outlook.RNA biology · 2026Review
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- Dynamic changes in total hemoglobin concentration in the frontal region during motion-based video gameplay in patients with Duchenne muscular dystrophy: a pilot study using portable near-infrared spectroscopy (NIRS).BMC research notes · 2026Article
- Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study.Molecular biology reports · 2026Article
- Antisense oligonucleotide selection scheme for rare Duchenne muscular dystrophy mutations: Application toMolecular therapy. Nucleic acids · 2026Article
- rAAV production cost analysis: Indication-specific cost per dose and reduction strategies.Gene therapy · 2026Article
- A Real-World Target Trial Emulation of Eteplirsen, Casimersen, and Golodirsen to Evaluate Survival Among Patients with Duchenne Muscular Dystrophy.Advances in therapy · 2026Article
- Exon-skipping therapies for DMD in Kazakhstan: Progress and challenges.Journal of neuromuscular diseases · 2026Article
- Influencing factors and early warning indicators for nonvertebral fractures in patients with Duchenne muscular dystrophy.JBMR plus · 2026Article
219 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to estimate the global overall and birth prevalence of DMD through an updated systematic review of the literature.
methodsMEDLINE and EMBASE databases were searched for original research articles on the epidemiology of DMD from inception until 1st October 2019. Studies were included if they were original observational research articles written in English, reporting DMD prevalence and/or incidence along with the number of individuals of the underlying population. The quality of the studies was assessed using a STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) checklist adapted for observational studies on rare diseases. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using random-effects logistic models for overall and birth prevalence and within two different underlying populations (i.e. all individuals and in males only), separately. Heterogeneity was assessed using Cochran's Q-test along with its derived measure of inconsistency I
resultsA total of 44 studies reporting the global epidemiology of DMD were included in the systematic review and only 40 were included in the meta-analysis. The pooled global DMD prevalence was 7.1 cases (95% CI: 5.0-10.1) per 100,000 males and 2.8 cases (95% CI: 1.6-4.6) per 100,000 in the general population, while the pooled global DMD birth prevalence was 19.8 (95% CI:16.6-23.6) per 100,000 live male births. A very high between-study heterogeneity was found for each epidemiological outcome and for all underlying populations (I
conclusionsGenerating epidemiological evidence on DMD is fundamental to support public health decision-making. The high heterogeneity and the lack of high quality studies highlights the need to conduct better quality studies on rare diseases.
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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.