{
  "abstract": "IntroductionDuchenne and Becker muscular dystrophies (DMD/BMD) are among the most common inherited neuromuscular disorders worldwide. The reported prevalence of DMD is 7.1 cases per 100,000 adult males and 2.8 cases per 100,000 individuals in the general population, while the birth prevalence of DMD is estimated at 19.8 cases per 100,000 liveborn males.MethodsThe current study presents comprehensive epidemiological data on DMD/BMD in the Russian Federation. The analyzed cohort comprised 2 776 patients from the Russian Federation with a diagnosis of DMD/BMD confirmed by molecular genetic testing.ResultsAccording to the obtained results, the estimated birth prevalence of DMD/BMD in the Russian Federation was 20.3 per 100,000 liveborn males (95% CI: 18.8-21.7).DiscussionThe estimated birth prevalence of DMD/BMD in the Russian Federation, together with advances in disease-modifying therapies, particularly gene replacement therapy, supports the need to develop and implement newborn and early childhood screening programs. Such programs could facilitate the initiation of supportive and disease-modifying therapies at early stages, potentially before the onset of clinical symptoms, thereby improving disease outcomes and prognosis. The results of the present study are also important for estimating future treatment needs and planning healthcare expenditures.",
  "abstract_shown": true,
  "affiliations": [
    "Research Centre for Medical Genetics, Moscow, Russia",
    "National Medical Research Center for Children’s Health Federal State Autonomous Institution of the Russian Federation Ministry of Health, Moscow, Russia",
    "D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint-Petersburg, Russia"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 13,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Elena Kistol"
    },
    {
      "affs": [
        1
      ],
      "name": "Alexander Pushkov"
    },
    {
      "affs": [
        2
      ],
      "name": "Anton Kiselev"
    },
    {
      "affs": [
        0
      ],
      "name": "Maria Bulakh"
    },
    {
      "affs": [
        0
      ],
      "name": "Alena Chukhrova"
    },
    {
      "affs": [
        0
      ],
      "name": "Peter Sparber"
    },
    {
      "affs": [
        0
      ],
      "name": "Oksana Ryzhkova"
    },
    {
      "affs": [
        0
      ],
      "name": "Olga Shchagina"
    },
    {
      "affs": [
        1
      ],
      "name": "Ilya Zhanin"
    },
    {
      "affs": [
        2
      ],
      "name": "Marianna Maretina"
    },
    {
      "affs": [
        1
      ],
      "name": "Kirill Savostyanov"
    },
    {
      "affs": [
        2
      ],
      "name": "Andrey Glotov"
    },
    {
      "affs": [
        0
      ],
      "name": "Aleksander Polyakov"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/933afv4nc3dgk.bib",
  "cited_by": 0,
  "doi": "10.3389/fgene.2026.1953115",
  "fulltext_url": "https://www.frontiersin.org/articles/10.3389/fgene.2026.1953115/full",
  "id": "933afv4nc3dgk",
  "issns": [
    "1664-8021"
  ],
  "landing_url": "https://doi.org/10.3389/fgene.2026.1953115",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "QH426-470"
    ],
    [
      "openalex",
      "1312|Muscle Physiology and Disorders"
    ]
  ],
  "openalex": "W7223573467",
  "pdf_url": "https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2026.1953115/pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-25",
  "publisher": "Frontiers Media S.A.",
  "ris": "https://research.draconitic.com/paper/933afv4nc3dgk.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:46:53Z",
      "native_id": "c3f7ff38e1f0445c96bbd57c2eadbb47",
      "source": "doaj",
      "url": "https://doi.org/10.3389/fgene.2026.1953115"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Muscle Physiology and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation",
  "title_text": "The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:46:53Z",
  "url": "https://research.draconitic.com/paper/933afv4nc3dgk",
  "venue": "Frontiers in Genetics",
  "versions": []
}