{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T06:15:56Z","timestamp":1765260956238,"version":"3.46.0"},"reference-count":26,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T00:00:00Z","timestamp":1764979200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"crossref","award":["122032300448-7"],"award-info":[{"award-number":["122032300448-7"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: The article presents data on Duchenne muscular dystrophy (DMD) in the Republic of North Ossetia-Alania (RNOA), describing the population characteristics of the disease among children in RNOA (2006\u20132023). Methods: The number of newborns was 172,115, with 86,057 boys from 2006 to 2023. During the reporting period, 19 families (23 patients, including 22 boys) were identified. The molecular and genetic characteristics of the patients were analyzed throughout the entire observation period, which began in 1998. Results: The prevalence of the disease was 1:3912 among newborn boys (95%CI: 1:2584\u20131:6242), which is slightly higher than in other regions of the Russian Federation (RF) and most countries around the world. The spectrum of DMD genetic variants in RNOA aligns with worldwide patterns but reveals differences in frequencies compared to RF data. The frequency of exon deletions in the DMD gene range from 65.0 to 70.0% (60% in RNOA vs. &lt;50% in RF) worldwide, for duplications\u20149.0\u201311.0% globally (16% in RNOA), and for nonsense variants\u20149.7\u201326.5% worldwide (20% in RNOA). Twelve patients (41.0%) in RNOA qualified for therapy, and Translarna was prescribed in most cases. In the cohort of children, one girl was identified with classic DMD, confirmed by genetic studies. Different limitations of the study were hindered by the small cohort size, patients\u2019 remote residences, and poor therapy compliance of our patients. Conclusions: The heterogeneity of mutation spectrum across different populations underscores the influence of ethnic background. Consequently, this study highlights the importance of population-specific studies for improving DMD care.<\/jats:p>","DOI":"10.3390\/genes16121458","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T08:21:43Z","timestamp":1765182103000},"page":"1458","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Duchenne Muscular Dystrophy in the Republic of North Ossetia\u2013Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3586-3458","authenticated-orcid":false,"given":"Rena","family":"Zinchenko","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3947-9242","authenticated-orcid":false,"given":"Inna","family":"Tebieva","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Educational Institution of Higher Professional Education \u201cNorth-Ossetian State Medical Academy\u201d of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia"},{"name":"Republican Children\u2019s Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1326-8706","authenticated-orcid":false,"given":"Sofya","family":"Ionova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8257-2680","authenticated-orcid":false,"given":"Alisa","family":"Zhmurova-Kriventsova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-1303","authenticated-orcid":false,"given":"Olga","family":"Shchagina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5017-7996","authenticated-orcid":false,"given":"Elena","family":"Zinina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulia","family":"Gabisova","sequence":"additional","affiliation":[{"name":"Republican Children\u2019s Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8623-6983","authenticated-orcid":false,"given":"Alana","family":"Khokhova","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Educational Institution of Higher Professional Education \u201cNorth-Ossetian State Medical Academy\u201d of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia"},{"name":"Republican Children\u2019s Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7042-5032","authenticated-orcid":false,"given":"Marina","family":"Tokazova","sequence":"additional","affiliation":[{"name":"Republican Children\u2019s Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9948-7374","authenticated-orcid":false,"given":"Murat","family":"Ikaev","sequence":"additional","affiliation":[{"name":"Republican Children\u2019s Clinical Hospital of the Republic of North Ossetia-Alania, Republic of North Ossetia-Alania, St. Pushkinskaya 40, Vladikavkaz 362007, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4175-5365","authenticated-orcid":false,"given":"Oleg","family":"Remizov","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Educational Institution of Higher Professional Education \u201cNorth-Ossetian State Medical Academy\u201d of the Ministry of Health of the Russian Federation, Vladikavkaz 362019, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9697-500X","authenticated-orcid":false,"given":"Sofia","family":"Popovich","sequence":"additional","affiliation":[{"name":"Federal State Autonomous Institution \u201cNational Medical Research Center for Children\u2019s Health\u201d of the Ministry of Health of the Russian Federation, Lomonosovsky Prospect, Moscow 119991, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9562-3774","authenticated-orcid":false,"given":"Ludmila","family":"Kuzenkova","sequence":"additional","affiliation":[{"name":"Federal State Autonomous Institution \u201cNational Medical Research Center for Children\u2019s Health\u201d of the Ministry of Health of the Russian Federation, Lomonosovsky Prospect, Moscow 119991, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3133-8018","authenticated-orcid":false,"given":"Sergey","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moskvorechye St., Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1542\/peds.2014-2044","article-title":"Prevalence of Duchenne and Becker muscular dystrophies in the United States","volume":"135","author":"Romitti","year":"2015","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","article-title":"A systematic review and metaanalysis on the epidemiology of Duchenne and Becker muscular dystrophy","volume":"24","author":"Mah","year":"2014","journal-title":"Neuromuscul Disord."},{"key":"ref_3","unstructured":"Ministry of Health of the Russian Federation (2025, October 26). 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