Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector57410.25692/ACEN.2019.1.2Original articlesОригинальные статьиUnknownMyotonic dystrophy: genetics and clinical polymorphismМиотоническая дистрофия: генетика и полиморфизм клинических проявленийIvanovaEkaterina O.ИвановаЕкатерина Олеговна
Russian Federation
kate-fileo@mail.ruMoskalenkoAnna N.МоскаленкоАнна Николаевна
Russian Federation
kate-fileo@mail.ruFedotovaEkaterina Yu.ФедотоваЕкатерина Юрьевна
Russian Federation
kate-fileo@mail.ruKurbatovSergey A.КурбатовСергей Александрович
Russian Federation
kate-fileo@mail.ruIllarioshkinSergey N.ИллариошкинСергей Николаевич
Russian Federation
kate-fileo@mail.ruResearch Center of NeurologyФГБНУ «Научный центр неврологии»Voronezh Regional Clinical Diagnostic CenterАУЗ ВО «Воронежский областной клинический консультативно-диагностический центр»15032019131152516032019Copyright ©; 2019, Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.Copyright ©; 2019, Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.2019Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/574

Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomaldominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine system, eyes, etc.). The paper highlights a huge heterogeneity ofclinical manifestations of myotonic type 1 and type 2, and reviews genetic aspects and current approaches to the diagnosis of myotonic dystrophy. We present ourown clinical observation of myotonic dystrophy in a family, which demonstrates a rare combination of a classical form of myotonic dystrophy type 1, syringomyeliaand proximal muscle weakness, and provides an classical example of the phenomenon of anticipation.

Миотоническая дистрофия — наиболее частая наследственная форма мышечной дистрофии у взрослых. Заболевание характеризуется прогрессирующим типом течения, аутосомно-доминантным наследованием и мультисистемным поражением (скелетные мышцы, миокард, эндокринная система, орган зрения и др.). В статье рассматриваются клинические проявления миотонической дистрофии 1-го и 2-го типов, а также анализируются генетические аспекты и современные подходы к диагностике миотонической дистрофии. Представлено собственное клиническое наблюдение заболевания в семье, демонстрирующее редкое сочетание миотонической дистрофии 1-го типа, сирингомиелии и проксимальной мышечной слабости, а также наглядный пример феномена антиципации.

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