Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press53910.17650/2222-8721-2023-13-2-10-19LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫConsensus concept of modern effective therapy for Duchenne muscular dystrophyКонсенсус по концепции современной эффективной терапии мышечной дистрофии ДюшеннаGremyakovaT. A.ГремяковаТ. А.
Russian Federation

Tatyana Andreevna Gremyakova

29 Sokolovo-Meshcherskaya St., Moscow 125466

15 Marshala Timoshenko St., Moscow 121359

Татьяна Андреевна Гремякова

125466 Москва, ул. Соколово-Мещерская, 29

121359 Москва, ул. Маршала Тимошенко, 15

tag@dmd-russia.ruArtemyevaS. B.АртемьеваС. Б.
Russian Federation

2 Taldomskaya St., Moscow 125412

Научно-исследовательский клинический институт педиатрии им. акад. Ю.Е. Вельтищева ФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России

125412 Москва, ул. Талдомская, 2

BaybarinaE. N.БайбаринаЕ. Н.
Russian Federation

4 Akademika Oparina St., Moscow 117198

117198 Москва, ул. Академика Опарина, 4

VashakmadzeN. D.ВашакмадзеН. Д.
Russian Federation

1A Litovskiy Bulvar, Moscow 117593

117593 Москва, Литовский бульвар, 1А

GuzevaV. I.ГузеваВ. И.
Russian Federation

2 Litovskaya St., Saint Petersburg 194100

194100 Санкт-Петербург, ул. Литовская, 2

GusakovaE. V.ГусаковаЕ. В.
Russian Federation

Build. 1A, 19 Marshala Timoshenko St., Moscow 121359

121359 Москва, ул. Маршала Тимошенко, 19, стр. 1А

KuzenkovaL. M.КузенковаЛ. М.
Russian Federation

Build. 1, 2 Lomonosovskiy Prospect, Moscow 119991

119991 Москва, Ломоносовский проспект, 2, стр. 1

LavrovaA. E.ЛавроваА. Е.
Russian Federation

22 Semachko St., Nizhny Novgorod 603155

603155 Нижний Новгород, ул. Семашко, 22

LvovaO. A.ЛьвоваО. А.
Russian Federation

51 Reshetskaya St., Yekaterinburg 620050

19 Mira St., Yekaterinburg 620002

620050 Екатеринбург, ул. Решетская, 51

620002 Екатеринбург, ул. Мира, 19

MikhaylovaS. V.МихайловаС. В.
Russian Federation

117 Leninskiy Prospekt, Moscow 119571

119571 Москва, Ленинский проспект, 117

NazarenkoL. P.НазаренкоЛ. П.
Russian Federation

10 Naberezhnaya reki Ushayki, Tomsk 634050

634050 Томск, Набережная реки Ушайки, 10

NikitinS. S.НикитинС. С.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

PolyakovA. V.ПоляковА. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

DadaliE. L.ДадалиЕ. Л.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

RumyantsevA. G.РумянцевА. Г.
Russian Federation

1 Ostrovityanova St., Moscow 117997

117997 Москва, ул. Островитянова, 1

SakbaevaG. E.СакбаеваГ. Е.
Russian Federation

15 Marshala Timoshenko St., Moscow 121359

121359 Москва, ул. Маршала Тимошенко, 15

SuslovV. M.СусловВ. М.
Russian Federation

2 Litovskaya St., Saint Petersburg 194100

194100 Санкт-Петербург, ул. Литовская, 2

GremyakovaO. I.ГремяковаО. И.
Russian Federation

29 Sokolovo-Meshcherskaya St., Moscow 125466

125466 Москва, ул. Соколово-Мещерская, 29

StepanovA. A.СтепановА. А.
Russian Federation

15 Marshala Timoshenko St., Moscow 121359

121359 Москва, ул. Маршала Тимошенко, 15

ShakhovskayaN. I.ШаховскаяН. И.
Russian Federation

1 Ivana Susanina St., Moscow 127486

127486 Москва, ул. Ивана Сусанина, 1

Charitable Foundation “Gordey”Благотворительный фонд «Гордей»Central Clinical Hospital with a Polyclinic of the President AdministrationФГБУ «Центральная клиническая больница с поликлиникой» Управления делами Президента Российской ФедерацииYu. E. Veltishchev Research Clinical Institute of PediatricsНаучно-исследовательский клинический институт педиатрии им. акад. Ю. Е. Вельтищева ФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииV. I. Kulakov Scientific Center for Obstetrics, Gynecology and PerinatologyФГБУ «Научный центр акушерства, гинекологии и перинатологии им. акад. В. И. Кулакова»Central Clinical Hospital of the Russian Academy of SciencesФГБНУ «Центральная клиническая больница Российской академии наук»Saint-Petersburg State Pediatric Medical UniversityФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииCentral State Medical Academy of the President AdministrationФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента Российской ФедерацииNational Medical Research Center for Children’s HealthФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииVolga Research Medical University, Institute of Pediatrics University ClinicИнститут педиатрии Университетской клиники ФГБОУ ВО «Приволжский исследовательский медицинский университет»Children’s City Hospital No. 9ГАУЗ СО «Детская городская больница № 9»Ural State University named after B. N. YeltsinФГАОУ «Уральский государственный университет им. Б. Н. Ельцина»Russian Children’s Clinical HospitalРоссийская детская клиническая больница ФГАОУ ВО «РНИМУ им. Н. И. Пирогова» Минздрава РоссииResearch Institute of Medical Genetics, Tomsk National Research Medical CenterНИИ медицинской генетики ФГБНУ «Томский национальный исследовательский медицинский центр»N. P. Bochkov Medical Genetic Research CenterФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки РоссииN. I. Pirogov Russian National Research Medical University of the Ministry of Health of RussiaФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава РоссииPsycho-neurological Hospital for Children with CNS Lesions with Mental DisordersГБУЗ МО «Психоневрологическая больница для детей с поражением ЦНС с нарушением психики»1606202313210191506202315062023Copyright ©; 2023, Gremyakova T.A., Artemyeva S.B., Baybarina E.N., Vashakmadze N.D., Guzeva V.I., Gusakova E.V., Kuzenkova L.M., Lavrova A.E., Lvova O.A., Mikhaylova S.V., Nazarenko L.P., Nikitin S.S., Polyakov A.V., Dadali E.L., Rumyantsev A.G., Sakbaeva G.E., Suslov V.M., Gremyakova O.I., Stepanov A.A., Shakhovskaya N.I.Copyright ©; 2023, Гремякова Т.А., Артемьева С.Б., Байбарина Е.Н., Вашакмадзе Н.Д., Гузева В.И., Гусакова Е.В., Кузенкова Л.М., Лаврова А.Е., Львова О.А., Михайлова С.В., Назаренко Л.П., Никитин С.С., Поляков А.В., Дадали Е.Л., Румянцев А.Г., Сакбаева Г.Е., Суслов В.М., Гремякова О.И., Степанов А.А., Шаховская Н.И.2023Gremyakova T.A., Artemyeva S.B., Baybarina E.N., Vashakmadze N.D., Guzeva V.I., Gusakova E.V., Kuzenkova L.M., Lavrova A.E., Lvova O.A., Mikhaylova S.V., Nazarenko L.P., Nikitin S.S., Polyakov A.V., Dadali E.L., Rumyantsev A.G., Sakbaeva G.E., Suslov V.M., Gremyakova O.I., Stepanov A.A., Shakhovskaya N.I.Гремякова Т.А., Артемьева С.Б., Байбарина Е.Н., Вашакмадзе Н.Д., Гузева В.И., Гусакова Е.В., Кузенкова Л.М., Лаврова А.Е., Львова О.А., Михайлова С.В., Назаренко Л.П., Никитин С.С., Поляков А.В., Дадали Е.Л., Румянцев А.Г., Сакбаева Г.Е., Суслов В.М., Гремякова О.И., Степанов А.А., Шаховская Н.И.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/539

Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.

Мышечная дистрофия Дюшенна – генетическое орфанное нервно‑мышечное заболевание, обусловленное мутацией гена DMD, кодирующего белок дистрофин. В результате развивающегося и прогрессирующего повреждения и атрофии мышц дети теряют способность ходить, у них развиваются респираторные и кардиологические нарушения. При условии ранней диагностики медицинская помощь, направленная на максимально продолжительное сохранение амбулаторности пациента, при терапии глюкокортикостероидами и реабилитационных мероприятиях для предупреждения сердечно‑легочных осложнений и остеопороза существенно меняет траекторию развития заболевания. Эффективность новых препаратов генной таргетной терапии миодистрофии Дюшенна, частично восстанавливающих синтез полноразмерного или редуцированного дистрофина, зависит от их своевременного и адекватного использования в сочетании с комплексной медицинской помощью, рекомендованной для данной нозологии.

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