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.
Ключевые слова
Об авторах
Е. К. ЕрохинаРоссия
Елизавета Константиновна Ерохина
117997 Москва, ул. Островитянова, 1
Е. А. Мельник
Россия
117997 Москва, ул. Островитянова, 1;
125367 Москва, Волоколамское шоссе, 80
Д. В. Влодавец
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