Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press10710.17650/2222-8721-2015-1-25-34LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫInherited progressive limb-girdle muscular dystrophy type 2A (calpainopathy): a review of literatureНаследственная прогрессирующая конечностно-поясная мышечная дистрофия 2А типа (кальпаинопатия): обзор литературыGrishinaD. A.ГришинаД. А.
Russian Federation

80, Volokolamskoe Shosse, Moscow 125367, Russia

Научно-консультативное отделение, Россия, 125367 Москва, Волоколамское шоссе, 80

SuponevaN. A.СупоневаН. А.
Russian Federation

80, Volokolamskoe Shosse, Moscow 125367, Russia

отделение нейрореабилитации и физиотерапии, Россия, 125367 Москва, Волоколамское шоссе, 80

ShvedkovV. V.ШведковВ. В.
Russian Federation

80, Volokolamskoe Shosse, Moscow 125367, Russia

Научно-консультативное отделение, Россия, 125367 Москва, Волоколамское шоссе, 80

BelopasovaA. V.БелопасоваА. В.
Russian Federation

80, Volokolamskoe Shosse, Moscow 125367, Russia

3-е неврологические отделение, Россия, 125367 Москва, Волоколамское шоссе, 80

Research Center of Neurology, Russian Academy of Medical SciencesФГБУ «Научный центр неврологии» РАМН220520155125342105201521052015Copyright ©; 2015, Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V.Copyright ©; 2015, Гришина Д.А., Супонева Н.А., Шведков В.В., Белопасова А.В.2015Grishina D.A., Suponeva N.A., Shvedkov V.V., Belopasova A.V.Гришина Д.А., Супонева Н.А., Шведков В.В., Белопасова А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/107

The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological role of calpain 3 protein, possible pathogenetic mechanisms for the development of myodystrophy, diagnostic criteria, and therapeutic approaches. Clinical neurologists» awareness of LGMD2A will be able to reduce the time to a correct diagnosis, to take measures to slow down the rate of disease progression, to make medical and genetic counselling, a follow-up, and monitoring, as well as to use measures for the physical and social adaptation of a patient. Key words: progressive limb-girdle muscular dystrophy, calpainopathy, calpain 3, inherited myopathy, creatinine phosphokinase, electromyography, muscle magnetic resonance imaging, genetic analysis, muscle biopsy, differential diagnosis.

В отечественной литературе недостаточно внимания уделено проблеме одной из наиболее частой формы аутосомно-рецессивных прогрессирующих конечностно-поясных миодистрофий – кальпаинопатии (КПМД2А). В настоящей статье освещены современ- ные взгляды на физиологическую роль белка кальпаина-3, возможные патогенетические механизмы развития миодистрофии, диагностические критерии и терапевтические подходы. Осведомленность клинических неврологов в отношении КПМД2А позво- лит сократить сроки постановки правильного диагноза, предпринять меры по замедлению темпа прогрессирования заболевания, осуществлять медико-генетическое консультирование, наблюдение и мониторинг, а также своевременно применять меры по физической и социальной адаптации пациента.

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