neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2021-2-4-227-232neurojour-55Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESКлинический случай тяжёлого течения мышечной дистрофии Дюшенна, обусловленной нонсенс-мутацией в гене DMD, у девочкиA clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girlПодклетноваТатьяна ВладимировнаPodkletnovaTatyana V.

Кандидат медицинских наук, старший научный сотрудник лаборатории нервных болезней ФГАУ «НМИЦ здоровья детей» Минздрава России.

e-mail: podkletnova.tv@nczd.ru

MD, PhD, Senior Researcher, Laboratory of Nervous Diseases, National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation, Moscow, 119991, Russian Federation.

e-mail: podkletnova.tv@nczd.ru

podkletnova.tv@nczd.ruhttps://orcid.org/0000-0002-6316-9992КондаковаО. Б.KondakovaOlga B.noemail@neicon.ruhttps://orcid.org/0000-0002-8381-8793УвакинаЕ. В.UvakinaEugeniya V.noemail@neicon.ruФисенкоД. А.FisenkoDariya A.noemail@neicon.ruhttps://orcid.org/0000-0001-5657-7851ЛялинаА. С.LyalinaAnastasiya A.noemail@neicon.ruПоповичС. Г.PopovichSophiya G.noemail@neicon.ruhttps://orcid.org/0000-0002-9562-3774КузенковаЛ. М.KuzenkovaLyudmila M.noemail@neicon.ruhttps://orcid.org/0000-0002-7269-9100КуренковА. Л.KurenkovAleksey L.noemail@neicon.ruhttps://orcid.org/0000-0003-1346-1351ПакЛ. А.PakLale A.noemail@neicon.ruhttps://orcid.org/0000-0001-8506-2064БурсаговаБ. И.BursagovaBella I.noemail@neicon.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s Health” of the Ministry of Health of the Russian FederationRussian FederationФГБУ ДПО «Центральная государственная медицинская академия» Управления делами Президента Российской ФедерацииРоссияCentral State Medical Academy of the Presidential Administration of the Russian FederationRussian Federation20212912202124227232Copyright © Подклетнова Т.В., Кондакова О.Б., Увакина Е.В., Фисенко Д.А., Лялина А.С., Попович С.Г., Кузенкова Л.М., Куренков А.Л., Пак Л.А., Бурсагова Б.И., 20212021Подклетнова Т.В., Кондакова О.Б., Увакина Е.В., Фисенко Д.А., Лялина А.С., Попович С.Г., Кузенкова Л.М., Куренков А.Л., Пак Л.А., Бурсагова Б.И.Podkletnova T.V., Kondakova O.B., Uvakina E.V., Fisenko D.A., Lyalina A.A., Popovich S.G., Kuzenkova L.M., Kurenkov A.L., Pak L.A., Bursagova B.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/55

Мышечная дистрофия Дюшенна (МДД) — наследственная прогрессирующая мышечная дистрофия, которая в основном проявляется у мальчиков, характеризуется началом в раннем возрасте, постепенной симметричной атрофией поперечно-полосатой мускулатуры конечностей, туловища, поражением сердечной мышцы.

Как правило, девочки и женщины, наследующие патологическую мутацию, классифицируются только как её носители и не имеют клинических проявлений заболевания. Те редкие случаи, когда женщины или девочки имеют клинические проявления МДД, могут быть обусловлены хромосомными перестройками, вовлекающими область короткого плеча Х-хромосомы (Xp21.2), делециями этого региона, полной потерей Х-хромосомы (синдром Шерешевского–Тернера), однородительской дисомнией Х-хромосомы, компаунд-гетерозиготным состоянием по двум патогенным мутациям в гене DMD, неравновесной инактивацией Х-хромосомы.

Когда у носителей мутации женского пола имеются клинические симптомы болезни, они обычно проявляются намного мягче, чем у мальчиков и юношей. Описания пациенток с тяжёлым течением и быстрым прогрессированием заболевания, сопоставимыми по скорости прогрессирования с мальчиками, единичны. В данной статье авторы делятся собственным опытом наблюдения пациентки, страдавшей тяжёлой формой МДД.

Summary. Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage to the heart muscle. As a rule, girls and women inheriting a pathological mutation are classified only as its carriers and do not have clinical manifestations of the disease. Rare cases when women or girls show clinical manifestations of DMD may be due to chromosomal rearrangements involving the region of the short arm of the X chromosome (Xp21.2), deletions of this region, complete loss of the X chromosome (Shereshevsky-Turner syndrome), homogenous X chromosome dysomnia, compound heterozygous state for two pathogenic mutations in the DMD gene, nonequilibrium inactivation of the X chromosome.

When female mutation carriers have DMD clinical symptoms, they usually manifest much milder than boys and young males. Descriptions of patients with the severe course and rapid progression of the disease, comparable in the rate of progression with boys, are rare. In this article, the authors share their experience of observing a girl patient who suffered from a severe form of DMD.

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The authors declare that there are no conflicts of interest present.