Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press43110.17650/2073-8803-2023-18-1-22-37REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИClinical characteristics of different forms of myotonic dystrophy type 1Клинические особенности течения разных форм миотонической дистрофии 1-го типаhttps://orcid.org/0000-0002-9617-1706ErokhinaE. K.ЕрохинаЕ. К.
Russian Federation

Elizaveta Konstantinovna Erokhina

Ostrovityanova St., Moscow 117997

Елизавета Константиновна Ерохина

117997 Москва, ул. Островитянова, 1

erokhina0310@gmail.comhttps://orcid.org/0000-0001-5436-836XMelnikE. A.МельникЕ. А.
Russian Federation

Ostrovityanova St., Moscow 117997;

80 Volokolamskoe Shosse, Moscow 125367

117997 Москва, ул. Островитянова, 1;

125367 Москва, Волоколамское шоссе, 80

https://orcid.org/0000-0003-2635-2752VlodavetsD. V.ВлодавецД. В.
Russian Federation

Ostrovityanova St., Moscow 117997

117997 Москва, ул. Островитянова, 1

N. I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава РоссииResearch Center of NeurologyФГБНУ «Научный центр неврологии»1501202318122372506202325062023Copyright ©; 2023, ABV-PressCopyright ©; 2023, АБВ-пресс2023ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/431

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.

Миотоническая дистрофия 1-го типа (МД1) – одна из самых распространенных нервно-мышечных болезней с аутосомно-доминантным типом наследования, ассоциированная с экспансией CTG-повторов в гене DMPK. Особенностью МД1 является наличие не только мышечных симптомов, но и мультисистемности. В зависимости от возраста дебюта болезни и количества CTG-повторов выделяют врожденную, инфантильную, ювенильную, классическую (взрослую) форму и форму с поздним дебютом. Каждая форма имеет свои особенности дебюта, течения, клинической картины болезни, что затрудняет своевременное установление диагноза. Повышение осведомленности врачей всех специальностей о характере течения разных форм МД1 позволит диагностировать заболевание на более ранних сроках, улучшить прогноз и качество жизни пациентов. В статье приводится обзор литературы, демонстрирующий спектр клинических проявлений при разных формах МД1.

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