Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector95010.54101/ACEN.2023.3.11Clinical analysisКлинический разборResearch ArticleOral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow regionОпыт использования пероральной патогенетической терапии препаратом рисдиплам у взрослых пациентов со спинальной мышечной атрофией 5q в Московской областиhttps://orcid.org/0000-0001-6004-9111572003269987300-0301NovikovaEkaterina S.НовиковаЕкатерина Сергеевна
Russian Federation

neurologist at the Orphan diseases center, junior researcher, M.F. Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia

врач-невролог Центра орфанных заболеваний, м.н.с. отд. неврологии ГБУЗ МО МОНИКИ им. М.Ф. Владимирского, Москва, Россия

novikova.ekserg@yandex.ruM.F. Vladimirsky Moscow Regional Research and Clinical InstituteГБУЗ Московской области «Московский областной научно-исследовательский клинический институт имени М.Ф. Владимирского»2909202317388932802202317042023Copyright ©; 2023, Novikova E.S.Copyright ©; 2023, Новикова Е.С.2023Novikova E.S.Новикова Е.С.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/950

5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy. A specific therapy has changed the prognosis for such patients, prevented worsening disability, and improved the quality of life. Here are presented follow-up data for 13 patients with SMA aged 19–42 years receiving oral therapy for 2021–2023. Changes in motor functions were assessed using a Revised Upper Limb Module (RULM) every 6 months. According to the follow-up data for risdiplam use in adult patients with SMA in the Moscow region, condition can be stabilized and motor functions can be improved even in patients with a severe neurological deficit at advanced disease stages.

Спинальная мышечная атрофия 5q (СМА) — редкое аутосомно-рецессивное нервно-мышечное заболевание, характеризующееся прогрессирующей гибелью мотонейронов с развитием мышечной слабости и атрофий. Появление патогенетической терапии позволило изменить прогноз течения заболевания у данной группы больных, предотвратить нарастание инвалидизации, улучшить качество жизни. Представлены данные динамического наблюдения за 2021–2023 гг. за 13 пациентами с СМА в возрасте 19–42 лет, получающими пероральную терапию. Оценка динамики моторных функций проводилась с использованием шкалы RULM каждые 6 мес. Опыт наблюдения за взрослыми пациентами с СМА, получающими лечение препаратом рисдиплам в Московской области, показывает, что возможна стабилизация состояния и улучшения моторных функций даже в случае достаточно грубого неврологического дефицита вследствие длительного течения заболевания.

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