Факторы, модифицирующие течение спинальной мышечной атрофии 5q
https://doi.org/10.17650/2222-8721-2023-13-62-73
Аннотация
Проксимальная спинальная мышечная атрофия 5q (СМА 5q) – это тяжелое аутосомно-рецессивное нервно-мышечное заболевание, характеризующееся прогрессирующими симптомами вялого паралича и мышечной атрофии вследствие дегенерации α-мотонейронов передних рогов спинного мозга. В настоящее время основным модифицирующим фактором СМА считают число копий гена SMN2, однако описано достаточное количество и других генетических и негенетических модификаторов течения СМА.
Расширенный неонатальный скрининг, стартовавший в РФ в 2023 г., позволяет обнаруживать СМА 5q до возникновения клинических проявлений. Однако для начала терапии и подбора правильного препарата важно знание не только основного модифицирующего фактора (числа копий SMN2), но и других генетических причин, которые могут повлиять на возраст манифестации болезни либо на эффективность терапии.
Об авторах
М. А. Ахкямова
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
115522 Москва, ул. Москворечье, 1
О. А. Щагина
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
115522 Москва, ул. Москворечье, 1
А. В. Поляков
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
115522 Москва, ул. Москворечье, 1
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Рецензия
Для цитирования:
Ахкямова М.А., Щагина О.А., Поляков А.В. Факторы, модифицирующие течение спинальной мышечной атрофии 5q. Нервно-мышечные болезни. 2023;13(4):62‑73. https://doi.org/10.17650/2222-8721-2023-13-62-73
For citation:
Akhkiamova M.A., Shchagina O.A., Polyakov A.V. Factors modifying the course of spinal muscular atrophy 5q. Neuromuscular Diseases. 2023;13(4):62‑73. (In Russ.) https://doi.org/10.17650/2222-8721-2023-13-62-73
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