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Peer-reviewedCC BYFrontiers in Genetics

The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation

  • Elena Kistol1
  • Alexander Pushkov2
  • Anton Kiselev3
  • Maria Bulakh1
  • Alena Chukhrova1
  • Peter Sparber1
  • Oksana Ryzhkova1
  • Olga Shchagina1
  • Ilya Zhanin2
  • Marianna Maretina3
  • Kirill Savostyanov2
  • Andrey Glotov3
1 more authors
  • Aleksander Polyakov1
  1. 1Research Centre for Medical Genetics, Moscow, Russia
  2. 2National Medical Research Center for Children’s Health Federal State Autonomous Institution of the Russian Federation Ministry of Health, Moscow, Russia
  3. 3D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Saint-Petersburg, Russia
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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.

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Cite

BibTeXRIS
BibTeX
@article{kistol2026prevalence,
  title = {{The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation}},
  author = {Elena Kistol and Alexander Pushkov and Anton Kiselev and Maria Bulakh and Alena Chukhrova and Peter Sparber and Oksana Ryzhkova and Olga Shchagina and Ilya Zhanin and Marianna Maretina and Kirill Savostyanov and Andrey Glotov and Aleksander Polyakov},
  journal = {Frontiers in Genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1953115},
  url = {https://doi.org/10.3389/fgene.2026.1953115},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
AU  - Elena Kistol
AU  - Alexander Pushkov
AU  - Anton Kiselev
AU  - Maria Bulakh
AU  - Alena Chukhrova
AU  - Peter Sparber
AU  - Oksana Ryzhkova
AU  - Olga Shchagina
AU  - Ilya Zhanin
AU  - Marianna Maretina
AU  - Kirill Savostyanov
AU  - Andrey Glotov
AU  - Aleksander Polyakov
PY  - 2026
DA  - 2026/10/25
JO  - Frontiers in Genetics
DO  - 10.3389/fgene.2026.1953115
UR  - https://doi.org/10.3389/fgene.2026.1953115
AB  - 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.
SN  - 1664-8021
ER  -