Genes · 2025
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.
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Zinchenko Rena, Tebieva Inna, Murtazina Aysylu, Ionova Sofya, Zhmurova-Kriventsova Alisa, Shchagina Olga, Zinina Elena, Gabisova Yulia, Khokhova Alana, Tokazova Marina, Ikaev Murat, Remizov Oleg, Popovich Sofia, Kuzenkova Ludmila, Marakhonov Andrey, Kutsev Sergey
Аннотация
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 (2006-2023).
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: 1:2584-1:6242), 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. <50% in RF) worldwide, for duplications-9.0-11.0% globally (16% in RNOA), and for nonsense variants-9.7-26.5% 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' 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.
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: 1:2584-1:6242), 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. <50% in RF) worldwide, for duplications-9.0-11.0% globally (16% in RNOA), and for nonsense variants-9.7-26.5% 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' 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.