[EPIDEMIOLGY OF DUCHENNE MUSCULAR DYSTROPHY IN THE RUSSIAN FEDERATION].

Q4 Medicine Problemy sotsial''noi gigieny i istoriia meditsiny / NII sotsial''noi gigieny, ekonomiki i upravleniia zdravookhraneniem im. N.A. Semashko RAMN, AO ''Assotsiatsiia ''Meditsinskaia literatura'' Pub Date : 2024-10-01 DOI:10.32687/0869-866X-2024-32-s2-1170-1175

S A Sterlikov, P V Zelenova, V I Starodubov, I P Vitkovskaya, S I Abramov, Yu I Oskov, D A Kucheryavaya, N A Golubev, N N Kamynina

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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.

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[俄罗斯联邦杜兴氏肌肉萎缩症的流行病学]。

了解杜兴氏肌营养不良症的流行病学情况有助于制定改善该疾病诊断和治疗的措施。目的：研究杜氏肌营养不良症的流行情况以及在俄罗斯联邦的平均诊断年龄。统计估算的准确性问题是由于诊断标准不统一造成的。需要制定统一的诊断标准（男性和突变携带者）。建议考虑对幼儿进行肌酸磷酸激酶水平筛查，随后对肌酸磷酸激酶水平较高的儿童进行有针对性的检查，包括检测是否携带杜氏肌营养不良症突变。

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