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Русский журнал детской неврологии

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Клинические особенности течения разных форм миотонической дистрофии 1-го типа

https://doi.org/10.17650/2073-8803-2023-18-1-22-37

Аннотация

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.

Об авторах

Е. К. Ерохина
ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава России
Россия

Елизавета Константиновна Ерохина

117997 Москва, ул. Островитянова, 1



Е. А. Мельник
ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава России; ФГБНУ «Научный центр неврологии»
Россия

117997 Москва, ул. Островитянова, 1;

125367 Москва, Волоколамское шоссе, 80



Д. В. Влодавец
ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава России
Россия

117997 Москва, ул. Островитянова, 1



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Рецензия

Для цитирования:


Ерохина Е.К., Мельник Е.А., Влодавец Д.В. Клинические особенности течения разных форм миотонической дистрофии 1-го типа. Русский журнал детской неврологии. 2023;18(1):22-37. https://doi.org/10.17650/2073-8803-2023-18-1-22-37

For citation:


Erokhina E.K., Melnik E.A., Vlodavets D.V. Clinical characteristics of different forms of myotonic dystrophy type 1. Russian Journal of Child Neurology. 2023;18(1):22-37. (In Russ.) https://doi.org/10.17650/2073-8803-2023-18-1-22-37

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ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)