EPIDEMIOLGY OF DUCHENNE MUSCULAR DYSTROPHY IN THE RUSSIAN FEDERATION

  • Authors: Sterlikov S.A.1,2, Zelenova O.V.1,2,3, Starodubov V.I.1,2, Vitkovskaya I.P.1,2,4,5, Abramov S.I.1,2, Oskov Y.I.1,2, Kucheryavaya D.A.1,2, Golubev N.A.1,2, Kamynina N.N.6
  • Affiliations:
    1. Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia
    2. A. V. Vishnevsky National Medical Research Center for Surgery, 117997, Moscow, Russia
    3. Morozovskaya Children's City Clinical Hospital, 119049, Moscow, Russia
    4. Russian National Research Medical University named after N. I. Pirogov, 117513, Moscow, Russia
    5. Research Institute of Health Care Organization and Medical Management, 115088, Moscow, Russia
  • Issue: Vol 32 (2024): NO ()
  • Pages: 1170-1175
  • Section: Articles
  • URL: https://journal-nriph.ru/journal/article/view/1794
  • DOI: https://doi.org/10.32687/0869-866X-2024-32-s2-1170-1175
  • Cite item

Abstract


Knowledge of the epidemiology of Duchenne muscular dystrophy is advisable for planning measures to improve the diagnosis and treatment of this disease. Purpose: to study the epidemic situation of Duchenne muscular dystrophy, as well as the average age of its diagnosis in the Russian Federation. The problem of accuracy of statistical estimates is due to heterogeneous diagnostic criteria. The development of unified diagnostic criteria (male gender and mutation carrier) is required. It is advisable to consider the issue of screening the level of creatine phosphokinase in young children with subsequent targeted examination of children with high levels, including testing for carriage of the Duchenne muscular dystrophy mutation.

About the authors

S. A. Sterlikov

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

O. V. Zelenova

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia; ;A. V. Vishnevsky National Medical Research Center for Surgery, 117997, Moscow, Russia;

V. I. Starodubov

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

I. P. Vitkovskaya

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia; ;Morozovskaya Children's City Clinical Hospital, 119049, Moscow, Russia; ;Russian National Research Medical University named after N. I. Pirogov, 117513, Moscow, Russia;

S. I. Abramov

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

Yu. I. Oskov

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

D. A. Kucheryavaya

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

N. A. Golubev

Central Research Institute of Healthcare Organization and Informatization, 127254, Moscow, Russia;

N. N. Kamynina

Research Institute of Health Care Organization and Medical Management, 115088, Moscow, Russia

References

  1. Прогрессирующая мышечная дистрофия Дюшенна. Прогрессирующая мышечная дистрофия Беккера. Клинические рекомендации. G71.0. Дети. М.; 2023. С. 98.
  2. Ishizaki M., Kobayashi M., Adachi K. et al. Female dystrophinopathy: review of current literature // Neuromuscul. Disord. 2018. Vol. 28, N 7. С. 572—581. doi: 10.1016/j.nmd.2018.05.002
  3. Lee I., Turnage C., Sutyla R. et al. The hidden disease: delayed diagnosis in Duchenne muscular dystrophy and co-occurring conditions // J. Dev. Behav. Pediatr. 2022. Vol. 43, N 8. P. e541-e545. doi: 10.1097/dbp.0000000000000948
  4. Гайнетдинова Д. Д., Новоселова А. А. Современные возможности диагностики и лечения мышечной дистрофии Дюшенна // Казанский медицинский журнал. 2020. Т. 101, №4. С. 530—537.
  5. Mohamed K., Appleton R., Nicolaides P. Delayed diagnosis of Duchenne muscular dystrophy // Eur. J. Paediatr. Neurol. 2000. Vol. 4, N 5. P. 219—223. doi: 10.1054/ejpn.2000.0274
  6. McMillan H. J., Gregas M., Darras B. T., Kang P. B. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy // Pediatrics. 2011. Vol. 127, N 1. P. e132—e136. doi: 10.1542/peds.2010-0922
  7. Mah J. K., Korngut L., Dykeman J. et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy // Neuromuscul. Disord. 2014. Vol. 24, N 6. P. 482—491. doi: 10.1016/j.nmd.2014.03.001
  8. Theadom A., Rodrigues M., Roxburgh R. et al. Prevalence of muscular dystrophies: a systematic literature review // Neuroepidemiology. 2014. Vol. 43, N 3-4. P. 259—268. doi: 10.1159/000362899
  9. Crisafulli S., Sultana J., Fontana A. et al. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis // Orphanet. J. Rare Dis. 2020. Vol. 15, N 1. P. 141. doi: 10.1186/s13023-020-01302-7
  10. Mccaffrey T., Guglieri M., Murphy A. P. et al. Cardiac involvement in female carriers of duchenne or becker muscular dystrophy // Muscle Nerve. 2017. Vol. 55, N 6. P. 810—818. doi: 10.1002/mus.25555
  11. Царькова С. А., Ушакова Р. А., Громада Н. Е. и др. Прогрессирующая мышечная дистрофия Дюшенна—Беккера. Трудности диагностики // Доктор.Ру. 2020. Т. 19, №10. С. 61—65.
  12. D’Amico A., Catteruccia M., Baranello G. et al. Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: critical issues and areas for improvements // Neuromusc. Dis. 2017. Vol. 27. P. 447—451. doi: 10.1016/j.nmd.2017.01.007
  13. Nadarajah V. D., van Putten M., Chaouch A. et al. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD) // Neuromusc. Dis. 2011. Vol. 21, N 8. P. 569—578. doi: 10.1016/j.nmd.2011.05.006
  14. Рекомендации по ведению пациентов с миодистрофией Дюшенна. 2-е издание. М.; 2018. С. 63.
  15. Salari N., Fatahi B., Valipour E. et al. Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis // J. Orthop. Surg. Res. 2022. Vol. 17, N 1. P. 96. doi: 10.1186/s13018-022-02730-4
  16. Ryder S., Leadley R. M., Armstrong N. et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review // Orphanet. J. Rare Dis. 2017. Vol. 12, N 1. P. 79. doi: 10.1186/s13023-017-0665-2

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