r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2023-28-3-44-49r-n-j-431Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSМиотубулярная Х-сцепленная миопатияMyotubular X-linked myopathyhttps://orcid.org/0000-0001-8469-1635НовиковаЛ. Б.NovikovaL. B.

Уфа

Ufa

novicova@inbox.ruhttps://orcid.org/0000-0001-8436-5610АкопянА. П.AkopianA. P.

Уфа

Ufa

ano-akopian@yandex.ruhttps://orcid.org/0000-0002-8552-6233ШараповаК. М.SharapovaK. M.

Шарапова Карина Маратовна

Уфа

Sharapova Karina Maratovna

Ufa

sharapovakarina.2020@gmail.comhttps://orcid.org/0000-0001-7231-8534ЛатыповаР. Ф.LatypovaR. F.

Уфа

Ufa

rau.lat@yandex.ruhttps://orcid.org/0000-0001-6152-3460ФайзуллинаН. М.FaizullinaN. M.

Уфа

Ufa

faizullina76@yandex.ruБашкирский государственный медицинский университетРоссияBashkir State Medical UniversityRussian Federation2023190720232834449Copyright © Новикова Л.Б., Акопян А.П., Шарапова К.М., Латыпова Р.Ф., Файзуллина Н.М., 20232023Новикова Л.Б., Акопян А.П., Шарапова К.М., Латыпова Р.Ф., Файзуллина Н.М.Novikova L.B., Akopian A.P., Sharapova K.M., Latypova R.F., Faizullina N.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/431

Миотубулярная (центронуклеарная) миопатия – редкое наследственное заболевание с первичным поражением мышц и клиническими проявлениями врожденной миопатии. Представлено описание клинического случая миотубулярной миопатии у мальчика, который наблюдался с возраста 2 мес. до 2 лет 5 мес. Заболевание проявлялось мышечной слабостью, гипотонией, дыхательной недостаточностью, вялым тетрапарезом, бульбарными нарушениями, необходимостью ИВЛ и потребностью в зондовом питании.

Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory failure, peripheral tetraparesis, bulbar disorders, the need for artificial lung ventilation and probe nutrition.

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