Прогрессирующие мышечные дистрофии

Прогрессирующие мышечные дистрофии представляют собой клинически и генетически гетеро- генную группу наследственных заболеваний, характеризующихся первичным поражением скелетной мускулатуры невоспалительного характера. Несмотря на то что наследственные миопатии могут дебютировать в любом возрасте и поражать различные группы мышц, у большинства из них имеются общие клинические признаки. Помимо молекулярно-генетических, имеется множество других методов диагностики, помогающих поставить правильный диагноз (исследование креатинкиназы в сыворотке крови, КТ и МРТ пораженных мышц; гистологическое исследование, иммуноблоттинг и иммуноцитохимическое исследование биоптата пораженной мышцы и др.). В настоящее время ведутся исследования по лечению различных прогрессирующих мышечных дистрофий, а для мышечной дистрофии Дюшенна имеются зарегистрированные в России (аталурен) и за рубежом (этеплирсен, голодирсен, вилтоларсен) специфические лекарственные препараты. Представлены основные данные по клинике, диагностике и лечению наиболее распространенных форм прогрессирующих мышечных дистрофий.

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