Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press12510.17650/2222-8721-2015-5-3-62-68CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРLate-onset Pompe disease with phenotype of the limb-girdle muscular dystrophyБолезнь Помпе с поздним началом c фенотипом поясно-конечностной миодистрофииKurbatovS. A.КурбатовС. А.
Russian Federation
kurbatov80@list.ruNikitinS. S.НикитинС. С.
Russian Federation
ZakharovaE. Yu.ЗахароваЕ. Ю.
Russian Federation
Regional Medical Diagnostic CentreАУЗ ВО «Воронежский областной клинический консультативно-диагностический центр»Moskovsky Prospect 11, 394026, Voronezh, Russia LLT “Diagnostika-plus”Россия, 394018, Воронеж, Московский просп., 11 OOO ДЦ «Диагностика плюс», Россия, ВоронежVoronezh, RussiaОбщество специалистов по нервно-мышечным болезнямResearch Institute of Pathology and Pathophysiology, Russian Academy of Medical Sciences, Moscow, RussiaРоссия, МоскваRussian Research Center for Medical Genetics RAMNS, Moskvorechye 1, 115478, Moscow, RussiaФГБНУ «Медико-генетический научный центр»Россия, 115478, Москва, ул. Москворечье, 1210920155362682109201521092015Copyright ©; 2015, Kurbatov S.A., Nikitin S.S., Zakharova E.Y.Copyright ©; 2015, Курбатов С.А., Никитин С.С., Захарова Е.Ю.2015Kurbatov S.A., Nikitin S.S., Zakharova E.Y.Курбатов С.А., Никитин С.С., Захарова Е.Ю.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/125

Pompe disease, also known as type II glycogenosis, is a rare autosomal recessive disease. Two main types include early-onset Pompe disease – severe, rapidly progressive multisystem deficency, manifestating on the first year of life, and late-onset Pompe disease (LOPD), with the age of onset ranging from the first year till late adulthood. Both types are caused by the deficiency of lysosomal acid-α-glucosidase due to the mutations in GAA gene, leading to an excessive storage of glycogen in body cells. LOPD is a slowly progressive disease with a primary lesion of a skeletal, respiratory and cardiac muscles, affected in different grade, and moderately elevated сreatine kinase. It is often difficult to perform differential diagnosis with a large group of hereditary and non-hereditary myopathies. We present a case report of LOPD with signs of limb-girdle muscular dystrophy.

Болезнь Помпе (БП) или гликогеноз 2-го типа – редкое аутосомно-рецессивное заболевание. Выделяют 2 основные формы БП – младенческую, с дебютом в первый год жизни, и БП с поздним началом (БППН), с дебютом в любом возрасте после первого года жизни. В основе обеих форм лежат одинаковые генетический и патофизиологический механизмы развития, проявляющиеся мутацией гена GAA и снижением активности фермента кислой-α-глюкозидазы, в результате чего в клетках тканей организма накапливается гликоген. Клинически БППН характеризуется вариабельностью поражения скелетной и дыхательной мускулатуры и в отличие от тяжелой, быстро прогрессирующей полиорганной патологии при младенческой форме, может сочетаться лишь с минимальными поражениями сердца и других органов. Фенотипический полиморфизм, незначительное повышение креатинкиназы вызывают затруднения в дифференциальной диагностике БППН и большой группы наследственных и ненаследственных миопатий. Представлен случай диагностики и дифференциальной диагностики БППН с фенотипом поясно-конечностной миодистрофии.

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