r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2020-25-2-5-11r-n-j-71Research ArticleОБЗОРЫREVIEWSНаследственные нервно-мышечные болезни. Часть 3. Мышечные дистрофии: патогенез, диагностика и лечениеHereditary Neuromuscular Diseases. Part 3. Muscular Dystrophies: Pathogenesis, Diagnosis and Attempts of Trial TreatmentsКазаковВ. М.KazakovV. M.

Санкт-Петербург

St. Petersburg

valerykazakov@mail.ruhttps://orcid.org/0000-0002-5884-3110СкоромецА. А.SkorometsA. A.

Санкт-Петербург

St. Petersburg

askoromets@gmail.comhttps://orcid.org/0000-0003-0561-4194РуденкоД. И.RudenkoD. I.

Санкт-Петербург

St. Petersburg

dmrud_H2@mail.ruСтучевскаяТ. Р.StuchevskayaT. R.

Санкт-Петербург

St. Petersburg

timamd@gmail.ruКолынинВ. О.KolyninV. O.

Санкт-Петербург

St. Petersburg

vkolynin@mail.ruКафедра неврологии ПСПбГМУ им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПБ 2РоссияDepartment of Neurology First Pavlov State Medical University; State Medical University, Russia Department of Neuromuscular Diseases, City Hospital 2Russian FederationКафедра неврологии ПСПбГМУ им. акад. И.П. ПавловаРоссияDepartment of Neurology First Pavlov State Medical UniversityRussian Federation202022072020252511Copyright © Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О., 20202020Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О.Kazakov V.M., Skoromets A.A., Rudenko D.I., Stuchevskaya T.R., Kolynin V.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/71

Обсуждается мембранная теория слабости мышц при наследственных мышечных дистрофиях вследствие повреждения сарколеммы и мембран других органелл скелетной мышцы, роль КТ, МРТ и фосфорной МРТспектроскопии в диагностике мышечных дистрофий, а также использование неинвазивного способа пренатальной диагностики путем молекулярно-генетического анализа ДНК плода, полученной из крови беременной женщины. Описаны различные пробные способы лечения мышечных дистрофий.

Membrane theory of muscle weakness in hereditary muscular dystrophy was described with accent of predominated Ca2+ ions in skeletal muscle due to destruction of the sarcolemma and other membranes of the different organelles of the skeletal muscle. Showed the role of CT, MRI and phosphorus NMR-spectroscopy as well as the noninvasive the analysis cell-free fetus DNA in maternal plasma for prenatal diagnostic of muscular dystrophies. The different a trial attempts of treatment of muscular dystrophy was described.

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