Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press38210.17650/2222-8721-2020-10-2-12-21LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫClinical and genetic characteristics of congenital muscular dystrophies (part 2)Клинико-генетическая характеристика врожденных мышечных дистрофий (часть 2)https://orcid.org/0000-0002-0431-1477ChausovaP. A.ЧаусоваП. А.
Russian Federation

1 Moskvorech’e St., Moscow 115522

Полина Александровна Чаусова

115478 Москва, ул. Москворечье, 1

 

polinaalex85@gmail.comRyzhkovaO. P.РыжковаО. П.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115478 Москва, ул. Москворечье, 1

https://orcid.org/0000-0002-0105-1833PolyakovA. V.ПоляковА. В.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115478 Москва, ул. Москворечье, 1

Research Centre for Medical Genetics named after academician N.P. Bochkov, Ministry of Education and Science of RussiaФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования России2308202010212212208202022082020Copyright ©; 2020, Chausova P.A., Ryzhkova O.P., Polyakov A.V.Copyright ©; 2020, Чаусова П.А., Рыжкова О.П., Поляков А.В.2020Chausova P.A., Ryzhkova O.P., Polyakov A.V.Чаусова П.А., Рыжкова О.П., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/382

Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd part of this review presents the classification, phenotypic forms, clinical features, pathogenesis and etiology of this type of congenital muscular dystrophies. In addition, the issues of molecular diagnosis of congenital muscular dystrophies are considered and information on modern developments in the treatment of this pathology is provided.

Дистрогликанопатии – одна из групп врожденных мышечных дистрофий, возникновение которых связано с нарушением гликозилирования α-дистрогликана. Сегодня известно 18 генов, ответственных за развитие этого состояния. Во 2-й части данного обзора представлены классификация, фенотипические формы, клинические признаки, патогенез и этиология данной формы врожденных мышечных дистрофий. Помимо этого, рассмотрены вопросы молекулярной диагностики врожденных мышечных дистрофий и предоставлены сведения о современных разработках терапии данной патологии.

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