Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press35010.17650/2222-8721-2019-9-4-26-33LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫClinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signsКлинический осмотр пациентов при болезни Помпе с поздним началом: типичные и нетипичные симптомы и признакиhttps://orcid.org/0000-0003-3292-2758NikitinS. S.НикитинС. С.
Russian Federation

Build. 2, 17 Krzhizhanovskogo St., Moscow 117258

Сергей Сергеевич Никитин

117258 Москва, ул. Кржижановского, 17 / 2

nikitin-s@bk.ruAssociation of Neuromuscular Disorders Specialists, Medical Center «Practical Neurology»Региональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология»100120209426331001202010012020Copyright ©; 2020, Nikitin S.S.Copyright ©; 2020, Никитин С.С.2020Nikitin S.S.Никитин С.С.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/350

Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.

Болезнь Помпе классифицируется на две основные формы: младенческая форма с дебютом в возрасте до 12 мес и болезнь Помпе с поздним началом – манифестацией в любом возрасте после 1-го года жизни. Болезнь Помпе с поздним началом характеризуется повышением уровня креатинкиназы, слабостью мышц туловища и поясов, часто сопровождающейся дыхательной недостаточностью в результате дегенерации дыхательных мышц. Задержка диагноза остается проблемой для большинства стран, и врачи должны быть насторожены относительно позднего установления правильного диагноза. Сложности диагностики болезни Помпе с поздним началом связаны с широким спектром и продолжительностью развития симптомов и неспецифических признаков, часто не отличимых от изменений, наблюдаемых при других нервно-мышечных расстройствах. Основные мышечные проявления и клинические тесты, используемые в диагностике болезни Помпе с поздним началом, рассматриваются на примерах из собственных наблюдений, обсуждаются внемышечные изменения, позволяющие заподозрить гликогеноз II типа.

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