r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2021-26-2-43-57r-n-j-170Research ArticleЛЕКЦИЯLECTUREПрогрессирующие мышечные дистрофииProgressive muscular dystrophieshttps://orcid.org/0000-0002-9334-8246КитаеваВ. Е.KitaevaV. E.

Москва

Moscow

varvara-kitaeva@mail.ruhttps://orcid.org/0000-0003-2988-5706КотовА. С.KotovA. S.

Москва

Moscow

alexeykotov1980@gmail.comhttps://orcid.org/0000-0001-6436-0249БунакМ. С.BunakM. S.

Москва

Moscow

mark-bunak@mail.ruГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»РоссияMoscow Regional Research and Clinical InstituteRussian Federation2021290520212624357Copyright © Китаева В.Е., Котов А.С., Бунак М.С., 20212021Китаева В.Е., Котов А.С., Бунак М.С.Kitaeva V.E., Kotov A.S., Bunak M.S.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/170

Прогрессирующие мышечные дистрофии представляют собой клинически и генетически гетеро- генную группу наследственных заболеваний, характеризующихся первичным поражением скелетной мускулатуры невоспалительного характера. Несмотря на то что наследственные миопатии могут дебютировать в любом возрасте и поражать различные группы мышц, у большинства из них имеются общие клинические признаки. Помимо молекулярно-генетических, имеется множество других методов диагностики, помогающих поставить правильный диагноз (исследование креатинкиназы в сыворотке крови, КТ и МРТ пораженных мышц; гистологическое исследование, иммуноблоттинг и иммуноцитохимическое исследование биоптата пораженной мышцы и др.). В настоящее время ведутся исследования по лечению различных прогрессирующих мышечных дистрофий, а для мышечной дистрофии Дюшенна имеются зарегистрированные в России (аталурен) и за рубежом (этеплирсен, голодирсен, вилтоларсен) специфические лекарственные препараты. Представлены основные данные по клинике, диагностике и лечению наиболее распространенных форм прогрессирующих мышечных дистрофий.

Progressive muscular dystrophies are a clinically and genetically heterogeneous group of hereditary diseases characterized by a non-inflammatory primary lesion of skeletal muscles. Although hereditary myopathies can debutе at any age and can affect various muscle groups, most muscular dystrophies share common clinical features. In addition to molecular genetic methods, there are many other diagnostic methods that help to make a correct diagnosis (study of creatine kinase in blood serum, CT and MRI of the affected muscles; histological examination, immunoblotting and immunocytochemical study of a biopsy of the affected muscle, etc.). Currently, for many of these diseases therapeutic studies are underway and there are medicines for Duchenne muscular dystrophy registered in Russia (ataluren) and abroad (eteplirsen, golodirsen, viltolarsen). The lecture presents basic data of the clinical picture, diagnosis and treatment of the most common forms of progressive muscular dystrophies.

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The authors declare that there are no conflicts of interest present.