Russia Pins Down Duchenne Muscular Dystrophy Rate at 20 per 100,000 Male Births

Duchenne and Becker muscular dystrophies have long carried a stubborn statistical shadow: researchers worldwide could quote figures from Germany, the United States, or China, but no comprehensive national estimate existed for Russia, one of the largest countries on Earth. A new study publishing in Frontiers in Genetics closes that gap. Drawing on molecularly confirmed diagnoses from a selective screening program running since 2018, a team at three Russian federal centers reports that the birth prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation is 20.3 cases per 100,000 liveborn males, with a 95 percent confidence interval of 18.8 to 21.7. Among all newborns regardless of sex, the figure comes to 10.4 per 100,000 births.

The estimate rests on an unusually large foundation. The analyzed cohort comprised 2,776 patients from across the Russian Federation whose diagnoses of Duchenne or Becker muscular dystrophy were confirmed by molecular genetic testing. All were enrolled through a selective screening program conducted between 2018 and 2025 at three federal centers: the N. P. Bochkov Research Centre for Medical Genetics in Moscow, the National Medical Research Center for Children’s Health of the Russian Ministry of Health in Moscow, and the D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology in Saint Petersburg. Biological samples flowed in from laboratory units of medical genetic counseling centers spanning various regions, and written informed consent was obtained from patients, parents, or legal guardians.

Entry into the study was tightly defined. Inclusion criteria required male sex, age of 29 years or younger, Russian citizenship, and either a serum creatine kinase level of at least 1,000 units per liter or a clinically established diagnosis of Duchenne or Becker muscular dystrophy. Because some individuals were referred for retesting at more than one center, the researchers cross-checked records to identify duplicates, counting each patient only once in the prevalence analysis. At the time of referral for genetic counseling, patients ranged in age from seven months to 29 years, with a median of seven years and seven months.

The diagnostic pipeline followed a two-stage logic typical of modern neuromuscular genetics. The first stage searched for gross deletions and duplications of one or more exons of the DMD gene using multiplex ligation-dependent probe amplification with commercial SALSA P034 and P035 probemixes, with products detected by fragment analysis on an ABI Prism 3,500 sequencer and analyzed with Coffalyser.Net software. The second stage hunted for point variants using targeted gene panels — a panel of neuromuscular disease genes at the Research Centre for Medical Genetics and an expanded 248-gene panel at the Children’s Health center — as well as whole-exome sequencing. The authors caution that even this layered approach can miss cases, particularly those involving deep intronic variants or complex structural rearrangements, and that muscle biopsy with dystrophin immunohistochemistry or RNA sequencing can serve as follow-up tools when genetic testing fails to confirm a clinical diagnosis.

Converting case counts into a prevalence figure required careful handling of ascertainment bias. The researchers stratified the 2,776 patients by year of birth, which ranged from 2000 to 2024, and divided the number of molecularly confirmed cases by the total number of liveborn males reported by Rosstat, the Federal State Statistics Service, for each calendar year. The pattern that emerged was striking: prevalence per birth year peaked between 2009 and 2017, reaching values from 18.8 to 24.7 per 100,000 liveborn males. The authors attribute this not to any true epidemiological shift but to diagnostic history. Patients born before 2009 were referred for molecular testing far less often because laboratories then had limited methodological capabilities and no free selective screening programs existed, leaving older age groups underrepresented. Conversely, patients born after 2017 are not yet fully captured, since the average age of clinical manifestation of the disease is four to six years and the median age at diagnosis in this cohort was seven years and seven months — meaning the youngest patients likely remain underdiagnosed.

That reasoning led the team to anchor its headline estimate on the birth cohort of 2009 through 2017, a group of 1,729 patients. Rosstat records show that 16,607,468 children were born in Russia during those years. Dividing confirmed cases by births yields the average prevalence of 10.4 per 100,000 among all live births, and adjusting for the sex ratio of 105 male births per 100 female births produces the figure of 20.3 per 100,000 liveborn males. The authors note this Russian estimate sits comfortably within the global range: an analysis of 40 publications on disease prevalence among children and newborns put worldwide incidence at 19.8 per 100,000 liveborn males, with a 95 percent confidence interval of 16.6 to 23.6.

The international comparison table in the paper shows how closely Russia’s figure tracks other national estimates, though the authors stress that study designs differ. Pilot neonatal screening programs in the United Kingdom (Wales) reported 19.5 per 100,000 liveborn males, Australia 19.7, and Norway 20.2 — the last almost identical to the Russian result. Finland reported 16.8 and Canada 15.5, differences the authors partly attribute to design: Finland’s diagnostic approach targeted the most common hereditary neuromuscular diseases generally rather than running a dedicated Duchenne/Becker screening program. In China, pilot neonatal screening in Henan province yielded 22.8 per 100,000. Within Russia itself, earlier regional studies had reported 21.6 per 100,000 male newborns in Rostov Oblast and 25.5 per 100,000 in the Republic of North Ossetia–Alania, but these efforts were confined to individual regions, and the new analysis represents the first unified national estimate.

Beyond the headline number, the study delivers one of the largest single-country snapshots of the DMD variant landscape. Among 2,455 probands with accessible genetic information, gross deletions accounted for 58.1 percent of pathogenic and likely pathogenic variants (1,426 of 2,455) and duplications for 14.0 percent (343 of 2,455). Point variants comprised roughly 27.9 percent (686 of 2,455), with nonsense variants the most frequent subtype at 13.5 percent (332 of 2,455). The remainder included small frameshift deletions, duplications, or insertions at 7.8 percent, splice site variants at 5.2 percent, missense variants at 1.1 percent, deep intronic variants at 0.08 percent, and minor in-frame deletions at 0.2 percent. The distribution, the authors note, agrees with an earlier study of the mutational spectrum in Russian patients.

Why does a precise prevalence number matter now? The authors frame their results against a therapeutic turning point. Three etiopathogenetic treatment approaches for Duchenne muscular dystrophy are currently available, most are mutation-specific — including exon skipping and therapies targeting premature termination codons — and gene replacement therapy is expected to become accessible to a broad group of patients regardless of variant type. In December 2025, the U.S. Department of Health and Human Services approved adding Duchenne muscular dystrophy to the list of conditions recommended for mass neonatal screening. Yet no standardized neonatal screening program for the disease has been implemented anywhere in the world, partly because there is no universal algorithm for testing the muscle isoform of creatine kinase and no universally applicable treatment comparable to what exists for spinal muscular atrophy.

The screening literature carries its own cautions, which the authors review in detail. Roughly two million newborns have been screened in pilot programs at 15 medical centers worldwide since 1975, producing an aggregate prevalence estimate of one in 5,509 liveborn males — a figure the authors consider unreliable because most early cases lacked molecular confirmation and samples collected within the first 24 to 72 hours of life can show falsely elevated creatine kinase from birth-related trauma. Creatine kinase levels rise significantly at four to six weeks of age in affected infants, suggesting screening after two months may reduce errors. There is also an open therapeutic question: most Duchenne medications have been tested in patients older than two years, so the applicability of early therapy in infants identified by screening remains uncertain, although published data on gene replacement therapy in children under three support the potential for expanding age criteria. Against that backdrop, the authors argue that their national prevalence estimate — together with the limitations they acknowledge, including the impossibility of fully assessing diagnostic coverage and the restriction of the analysis to birth years 2009 through 2017 — strengthens the case for developing newborn and early childhood screening programs in Russia, enabling supportive and disease-modifying therapies to begin before symptoms appear and giving health planners a solid basis for forecasting treatment needs and budgets.

Subject of Research: National prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation based on molecularly confirmed selective screening data

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

Article References: Kistol, E., Pushkov, A., Kiselev, A., Bulakh, M., Chukhrova, A., Sparber, P., Ryzhkova, O., Shchagina, O., Zhanin, I., Maretina, M., Savostyanov, K., Glotov, A., & Polyakov, A. (2026). The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation. Frontiers in Genetics, 17, Article 1953115. https://doi.org/10.3389/fgene.2026.1953115

Image Credits: AI Generated

DOI: 10.3389/fgene.2026.1953115

Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy, prevalence, Russia, selective screening, molecular genetics, DMD gene, newborn screening, epidemiology, gene replacement therapy, creatine kinase, genetic variants