Observational studyJournal of neuromuscular diseases2025
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.
Observational study in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Duchenne Muscular Dystrophy Under Three Years of Age.Children (Basel, Switzerland) · 2026Article
- Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is currently no reliable epidemiological data in the Russian Federation nor data on patient routing and evaluation of the efficacy and feasibility of diagnostic and therapeutic approaches to patients with suspected Duchenne/Becker muscular dystrophy (DMD/BMD).
objectiveTo record and monitor all patients with DMD/BMD in Russia.
methodsObservational multicenter prospective & retrospective Registry of patients with DMD/BMD.
resultsAlmost half of the 626 included patients live in the Central and Volga Federal Districts. The most common cause of the disease was large deletions of one or more exons (328 patients, 52.4%). Large duplications were identified in 92 patients (14.7%). Point mutations were identified in 206 patients, 32.9%. Among 448 patients with a known family history, 20% had a first-line relative diagnosed with DMD/BMD. The mean delay in diagnosis (the time from onset to clinically confirmed diagnosis) was 24.3 months.
conclusionsThese data demonstrate the preliminary results of the Registry and indicate a considerable delay in diagnosis in Russia.
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