Мышечная дистрофия Дюшенна: современные подходы к ведению и лечению пациентов

Мышечная дистрофия Дюшенна — одна из наиболее частых форм мышечных дистрофий детского возраста. По разным источникам, заболеваемость миодистрофией Дюшенна оценивается как 1 на 3,5–6 тыс. новорожденных мальчиков. В основе заболевания лежит мутация гена DMD, кодирующего белок дистрофин, приводящая к отсутствию или недостаточной функции дистрофина. Заболевание характеризуется слабостью проксимальных и псевдогипертрофией икроножных мышц, и в среднем к 11 годам пациенты теряют возможность самостоятельно передвигаться и становятся неамбулаторными больными. Авторами представлены современные эпидемиологические данные и особенности этиопатогенеза мышечной дистрофии Дюшенна, описаны клинические характеристики разных стадий болезни. Подробно представлен алгоритм и указаны ключевые этапы дифференциально-диагностического поиска. Особое внимание уделено вопросам лечения пациентов, в том числе патогенетическому лечению, реабилитации пациентов детского возраста.

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