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Нервно-мышечные болезни

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Врожденные мышечные дистрофии: классификация и диагностика


https://doi.org/10.17650/2222-8721-2014-0-1-6-14

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Аннотация

Врожденные мышечные дистрофии (ВМД) составляют клинически и генетически чрезвычайно гетерогенную группу мышечных заболеваний. Изначально ВМД рассматривались как группа болезней с дебютом в раннем детском возрасте, до начала самостоятельной ходьбы, и наличием признаков дистрофии при патогистологическом исследовании. Сегодня ВМД подразделяют не столь строго. Так, имеется целый спектр клинических форм, включающий дистрофии поясов с более поздним дебютом и
гистологической картиной, сближающей их с врожденными миопатиями. Различают 9 форм ВМД, распределенных на 6 групп согласно локализации и/или функции нарушенного белка и соответствующего одному из 26 генов. Чаще всего встречаются следующие формы ВМД: болезнь Ульриха (коллагенопатия, связанная с патологией 3 генов: COL6A1, COL6A2, COL6A3); вторичные дистрогликанопатии (нарушение гликозилирования α-дистрогликана с вовлечением 16 генов) и мерозин-дефицитная ВМД (мерозинопатия, обусловленная мутацией одного гена LAMA2). К классическим формам ВМД также относятся синдром ригидного позвоночника 1-го типа (селенопатия вследствие мутации гена SEPN) и L-ВМД (ламинопатия, вовлекающая ген LMNA). Диагностический поиск определяется выявлением характерной клинической картины, наличием или отсутствием признаков поражения центральной нервной системы, нормальным или умеренно повышенным уровнем креатинфосфокиназы. Выбор молекулярного исследования для уточнения диагноза определяется результатами предварительного лабораторно-инструментального обследования, включающего магнитно-резонансную томографию мышц и/или головного мозга, биопсии мышцы и/или кожи.

Об авторах

François Rivier
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


Pierre Meyer
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


Ulrike Walther-Louvie
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


Moïse Mercier
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


Bernard Echenne
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


Susana Quijano-Roy
Centre de Reference Maladies Neuromusculaires, CHRU Montpellier
Россия


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Для цитирования:


Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S. Врожденные мышечные дистрофии: классификация и диагностика. Нервно-мышечные болезни. 2014;(1):6-20. https://doi.org/10.17650/2222-8721-2014-0-1-6-14

For citation:


Rivier F., Meyer P., Walther-Louvie U., Mercier M., Echenne B., Quijano-Roy S. Congenital muscular dystrophies: classification and diagnostic strategy. Neuromuscular Diseases. 2014;(1):6-20. (In Russ.) https://doi.org/10.17650/2222-8721-2014-0-1-6-14

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