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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