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Нервно-мышечные болезни

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Наследственная прогрессирующая конечностно-поясная мышечная дистрофия 2А типа (кальпаинопатия): обзор литературы


https://doi.org/10.17650/2222-8721-2015-1-25-34

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Аннотация

В отечественной литературе недостаточно внимания уделено проблеме одной из наиболее частой формы аутосомно-рецессивных прогрессирующих конечностно-поясных миодистрофий – кальпаинопатии (КПМД2А). В настоящей статье освещены современ- ные взгляды на физиологическую роль белка кальпаина-3, возможные патогенетические механизмы развития миодистрофии, диагностические критерии и терапевтические подходы. Осведомленность клинических неврологов в отношении КПМД2А позво- лит сократить сроки постановки правильного диагноза, предпринять меры по замедлению темпа прогрессирования заболевания, осуществлять медико-генетическое консультирование, наблюдение и мониторинг, а также своевременно применять меры по физической и социальной адаптации пациента.

Об авторах

Д. А. Гришина
ФГБУ «Научный центр неврологии» РАМН
Россия
Научно-консультативное отделение, Россия, 125367 Москва, Волоколамское шоссе, 80


Н. А. Супонева
ФГБУ «Научный центр неврологии» РАМН
Россия
отделение нейрореабилитации и физиотерапии, Россия, 125367 Москва, Волоколамское шоссе, 80


В. В. Шведков
ФГБУ «Научный центр неврологии» РАМН
Россия
Научно-консультативное отделение, Россия, 125367 Москва, Волоколамское шоссе, 80


А. В. Белопасова
ФГБУ «Научный центр неврологии» РАМН
Россия
3-е неврологические отделение, Россия, 125367 Москва, Волоколамское шоссе, 80


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Для цитирования:


Гришина Д.А., Супонева Н.А., Шведков В.В., Белопасова А.В. Наследственная прогрессирующая конечностно-поясная мышечная дистрофия 2А типа (кальпаинопатия): обзор литературы. Нервно-мышечные болезни. 2015;5(1):25-34. https://doi.org/10.17650/2222-8721-2015-1-25-34

For citation:


Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V. Inherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literature. Neuromuscular Diseases. 2015;5(1):25-34. (In Russ.) https://doi.org/10.17650/2222-8721-2015-1-25-34

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