Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press66110.17650/2222-8721-2025-15-3-47-63LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫReview ArticleNeuroimaging in hereditary neuromuscular disorders: a literature review and clinical case reportsНейровизуализация при наследственных нервно-мышечных болезнях: обзор литературы с клиническими примерамиhttps://orcid.org/0000-0002-5337-1775BostanovaFatima M.БостановаФатима Мунияминовна
Russian Federation
bostanova@med-gen.ruhttps://orcid.org/0000-0002-5819-4835SharkovaI. V.ШарковаИ. В.
Russian Federation
bostanova@med-gen.ruhttps://orcid.org/0000-0001-7023-7378MurtazinaA. F.МуртазинаА. Ф.
Russian Federation
bostanova@med-gen.ruResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова»24122025153476303102025Copyright ©; 2025, Bostanova F.M., Sharkova I.V., Murtazina A.F.Copyright ©; 2025, Бостанова Ф.М., Шаркова И.В., Муртазина А.Ф.2025Bostanova F.M., Sharkova I.V., Murtazina A.F.Бостанова Ф.М., Шаркова И.В., Муртазина А.Ф.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/661

Hereditary neuromuscular disorders (NMDs) comprise a clinically and genetically heterogeneous group of conditions characterized by the involvement of the peripheral nervous system and skeletal muscles. This work presents a literature review focusing on brain neuroimaging findings in hereditary NMDs detected by magnetic resonance imaging.

The aim of this work was to describe and synthesize current data on brain magnetic resonance imaging abnormalities across various hereditary NMDs, based on a literature review and a clinical case series, and to evaluate potential clinico-radiological correlations.

A literature search was conducted in the PubMed database from 1984 to 2025 July using keywords including (white matter lesion) AND (myotonic dystrophy), (white matter lesion) AND (hereditary neuropathy), (white matter lesion) AND (Charcot–Marie–Tooth), (white matter lesion) AND (muscular dystrophy), (white matter lesion) AND (myasthenic syndrome), and (white matter lesion) AND (motor neuron disease). A total of 107 publications were included in the final review. A clinical case series with magnetic resonance imaging data is also presented, including Charcot–Marie–Tooth disease type 1X, myotonic dystrophy types 1 and 2, merosin-deficient congenital muscular dystrophy, and limb-girdle muscular dystrophy type 23.

The reviewed literature indicates that brain magnetic resonance imaging can have both diagnostic and prognostic clinical significance in some hereditary NMDs, especially in myotonic dystrophies, merosin-deficient muscular dystrophy, and Charcot–Marie–Tooth disease type 1X. The presented case series illustrates the variety of magnetic resonance imaging patterns and their association with clinical manifestations, underscoring the importance of integrating neuroimaging into the diagnostic workup for hereditary NMDs.

Наследственные нервно-мышечные болезни (НМБ) – клинически и генетически гетерогенная группа, характеризующаяся поражением нейромоторного аппарата. Настоящая работа представляет собой обзор литературы, посвященной нейровизуализации при наследственных НМБ, с акцентом на изменения, выявляемые при магнитно-резонансной томографии головного мозга.

Цель работы – обобщить магнитно-резонансные паттерны поражения белого вещества при наследственных НМБ на основе обзора литературы и клинических наблюдений, оценить возможные клинико-визуализационные корреляции.

Проведен обзор литературы, посвященной нейровизуализации при наследственных НМБ, в базе PubMed с 1984 г. по июль 2025 г. по следующим ключевым словам: (white matter lesion) AND (myotonic dystrophy), (white matter lesion) AND (hereditary neuropathy), (white matter lesion) AND (Charcot–Marie–Tooth), (white matter lesion) AND (muscular dystrophy), (white matter lesion) AND (myasthenic syndrome), (white matter lesion) AND (motor neuron disease). Всего в обзор по теме было включено 107 публикаций. Представлена серия клинических наблюдений, включая данные магнитно-резонансной томографии, со следующими верифицированными диагнозами: болезнь Шарко–Мари–Тута 1X-типа, миотоническая дистрофия 1-го и 2-го типов и врожденная мерозин-дефицитная мышечная дистрофия, поясно-конечностная мышечная дистрофия 23-го типа.

Изученные данные литературы свидетельствуют о том, что нейровизуализация при наследственных НМБ нередко выявляет характерные признаки поражения белого вещества головного мозга, которые имеют как диагностическое, так и прогностическое значение, особенно при миотонических дистрофиях, мерозин-дефицитной мышечной дистрофии и болезни Шарко–Мари–Тута 1X-типа. Серия клинических наблюдений иллюстрирует разнообразие магнитно-резонансных паттернов и их связь с клиническими проявлениями, что подтверждает необходимость интеграции нейровизуализации в диагностику НМБ.

hereditary neuromuscular disordermagnetic resonance imagingwhite matterleukoencephalopathyCharcot–Marie–Tooth diseasemuscular dystrophymyotonic dystrophymotor neuron diseasescongenital myasthenic syndromeнаследственная нервно-мышечная болезньмагнитно-резонансная томографиябелое веществолейкоэнцефалопатияболезнь Шарко–Мари–Тутамышечная дистрофиямиотоническая дистрофияболезнь мотонейронаврожденный миастенический синдромРоссийский научный фондRussian Science Foundation25-65-00031This work was supported by the Russian Science Foundation (project No. 25-65-00031).Работа выполнена при поддержке Российского научного фонда (проект № 25-65-00031).Goutman S.A., Callaghan B.C., Feldman E. A 2020 centenary perspective on neuromuscular disorders. J Neurol Neurosurg Psychiatry 2020;91:791–2. DOI: 10.1136/jnnp-2020-324327Wu Y.-F., Chen J.-A., Jong, Y.-J. Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications. J Biomed Sci 2025;32:30. 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