Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press46010.17650/2222-8721-2021-11-3-37-44ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯDiagnostic criteria for spinal muscular atrophy 5qКритерии диагностики спинальной мышечной атрофии 5qhttps://orcid.org/0000-0002-5819-4835SharkovaI. V.ШарковаИ. В.
Russian Federation

Inna V. Sharkova

1 Moskvorechye St., Moscow 115522

Инна Валентиновна Шаркова

115522 Москва, ул. Москворечье, 1

sharkova-inna@rambler.ruhttps://orcid.org/0000-0001-5602-2805DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0003-3292-2758NikitinS. S.НикитинС. С.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

Research Center of Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» Минобрнауки России1412202111337441312202113122021Copyright ©; 2021, Sharkova I.V., Dadali E.L., Nikitin S.S.Copyright ©; 2021, Шаркова И.В., Дадали Е.Л., Никитин С.С.2021Sharkova I.V., Dadali E.L., Nikitin S.S.Шаркова И.В., Дадали Е.Л., Никитин С.С.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/460

Background. The variety of phenotypic manifestations of spinal muscular atrophy 5q (5qCMA) is the reason for the difficulty in diagnosing and delaying the diagnosis, which is of particular importance today due to the emergence of new etiopathogenetic therapeutic possibilities.

Objective: determination of the main clinical features and symptoms of 5qCMA with onset at different age periods, and the development of an algorithm that can help in making decisions regarding the need for testing the SMN1 gene by primary care and hospital doctors.

Materials and methods. A retrospective analysis of the case histories of patients observed at the Research Center of Medical Genetics with a confirmed diagnosis of 5qCMA was carried out.

Results. The study included data from 315 patients, including: 173 with type I, 95 and 47 with types II and III 5qCMA. In all cases, the presence and diagnostic significance of 27 signs and symptoms were analyzed, depending on the age of disease manifestation. An attempt was made to isolate the main symptoms, which are the basis for the mandatory exclusion of 5qCMA by molecular genetic methods in patients with the onset of the disease before and after 18 months of life.

Введение. Разнообразие фенотипических проявлений спинальной мышечной атрофии 5q (5qСМА) является причиной затруднения диагностики болезни и задержки диагноза, что сегодня имеет особое значение в связи с появлением новых этиопатогенетических терапевтических возможностей.

Цель работы – определение основных клинических проявлений и симптомов, характерных для 5qСМА с дебютом в разных возрастных периодах, и разработка алгоритма, способного помочь в принятии решений относительно необходимости тестирования гена SMN1 врачами первичного звена и стационаров.

Материалы и методы. Проведен ретроспективный анализ историй болезни пациентов, наблюдавшихся в ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» с подтвержденным диагнозом 5qСМА.

Результаты. В исследование включены данные 315 больных, из них 173 – с I типом, 95 и 47 – со II и III типами 5qСМА. Во всех случаях проанализированы наличие и диагностическая значимость 27 признаков и симптомов в зависимости от возраста манифестации болезни. Предпринята попытка выделения основных симптомов, которые являются основанием для обязательного исключения 5qСМА молекулярно-генетическими методами у пациентов с дебютом болезни до и после 18 мес жизни.

 

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