medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2025-514medsovet-9729Research ArticleНЕЙРОДЕГЕНЕРАТИВНЫЕ ЗАБОЛЕВАНИЯNEURODEGENERATIVE DISEASESСовременные возможности ведения пациента с боковым амиотрофическим склерозомAdvanced management options for patients with amyotrophic lateral sclerosishttps://orcid.org/0000-0002-5397-9422МандраЕ. В.MandraE. V.

Мандра Екатерина Владимировна, к.м.н., ассистент кафедры нервных болезней Института клинической медицины

119991, Москва, ул. Трубецкая, д. 8, стр. 2

Ekaterina V. Mandra, Cand. Sci. (Med.), Assistant Professor of the Department of Nervous Diseases at the Institute of Clinical Medicine

8, Bldg. 2, Trubetskaya St., Moscow, 119991

emandra97@mail.ruhttps://orcid.org/0000-0002-1992-7960ПарфеновВ. А.ParfenovV. A.

Парфенов Владимир Анатольевич, д.м.н., профессор, заведующий кафедрой нервных болезней Института клинической медицины

119991, Москва, ул. Трубецкая, д. 8, стр. 2

Vladimir А. Parfenov, Dr. Sci. (Med.), Professor, Head of the Department of Nervous Diseases at the Institute of Clinical Medicine

8, Bldg. 2, Trubetskaya St., Moscow, 119991

vladimirparfenov@mail.ruПервый Московский государственный медицинский университет имени И.М. Сеченова (Сеченовский Университет)РоссияSechenov First Moscow State Medical University (Sechenov University)Russian Federation202511012026022138143Copyright © Мандра Е.В., Парфенов В.А., 20262026Мандра Е.В., Парфенов В.А.Mandra E.V., Parfenov V.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/9729

Боковой амиотрофический склероз (БАС) является прогрессирующим нейродегенеративным заболеванием с гетерогенной клинической картиной и неблагоприятным прогнозом. Накоплено много данных о патогенезе, факторах риска развития БАС, сформулированы диагностические критерии заболевания, однако ограничены возможности лечения данной патологии. Своевременная диагностика и начало терапии играют ключевую роль в улучшение течения заболевания. Представлено клиническое наблюдение пациентки 69 лет со спорадической формой БАС, у которой в течение 9 мес. отмечались нарастающая мышечная слабость в ногах, фасцикуляции и бульбарные нарушения (дизартрия, дисфагия). Диагноз был установлен в соответствии с современными диагностическими критериями на основании сочетания клинических признаков поражения центрального и периферического мотонейронов и результатов игольчатой электромиографии, подтвердившей генерализованный нейрогенный процесс, отсутствие данных за другие заболевания. Ключевым условием постановки диагноза стало прогрессирующее ухудшение моторной функции при исключении других причин. В качестве патогенетической терапии был назначен препарат рилузол (Теглютик) в форме пероральной суспензии. На фоне четырехмесячной терапии достигнута стабилизация состояния: показатель по функциональной шкале ALSFRS-R сохранился на одном уровне (35 баллов – при первичном осмотре, 34 балла – при осмотре через 4 мес.), не наблюдалось прогрессирования симптомов. Отсутствие отрицательной динамики по шкале ALSFRS-R в первые месяцы лечения рассматривается как клинически благоприятный признак. На данный момент рилузол является единственным препаратом в Российской Федерации с доказанной эффективностью, имеющим достоверно подтвержденное влияние на продолжительность жизни пациентов с БАС. Представленный случай демонстрирует эффективность раннего назначения рилузола (Теглютик) для замедления прогрессирования БАС в рамках комплексного подхода к ведению пациента.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with a heterogeneous clinical picture and an unfavorable prognosis. A lot of data has been accumulated on the pathogenesis, risk factors for ALS, and diagnostic criteria for the disease have been formulated, but treatment options for this pathology are limited. Timely diagnosis and initiation of therapy play a key role in improving the course of the disease. The article presents a clinical case of a 69-year-old patient with a sporadic form of ALS, who had been experiencing increasing muscle weakness in her legs, fasciculations, and bulbar disorders (dysarthria, dysphagia) for 9 months. The diagnosis was established in accordance with modern diagnostic criteria based on a combination of clinical signs of damage to the central and peripheral motor neurons and the results of needle electromyography, which confirmed a generalized neurogenic process, and the absence of data for other diseases. The key condition for the diagnosis was the progressive deterioration of motor function, while excluding other causes. The drug riluzole (Teglutik) in the form of an oral suspension was prescribed as pathogenetic therapy. Against the background of four months of therapy, stabilization of the condition was achieved: the indicator on the ALSFRS-R functional scale remained at the same level (35 points at the initial examination, 34 points at the examination after 4 months), there was no progression of symptoms. The absence of negative dynamics on the ALSFRS-R scale in the first months of treatment is considered as a clinically favorable sign. At the moment, riluzole is the only drug in the Russian Federation with proven efficacy that has a reliably confirmed effect on the life expectancy of patients with ALS. The presented case demonstrates the effectiveness of early administration of riluzole (Teglutik) to slow the progression of ALS as part of an integrated approach to patient management.

боковой амиотрофический склерозБАСдиагностика БАСрилузолТеглютикamyotrophic lateral sclerosisALSALS diagnosesriluzoleTeglutikReferencesGoutman SA, Hardiman O, Al-Chalabi A, Chió A, Savelieff MG, Kiernan MC, Feldman EL. Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis. Lancet Neurol. 2022;21(5):480–493. https://doi.org/10.1016/S1474-4422(21)00465-8.Goutman SA, Hardiman O, Al-Chalabi A, Chió A, Savelieff MG, Kiernan MC, Feldman EL. Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis. Lancet Neurol. 2022;21(5):480–493. https://doi.org/10.1016/S1474-4422(21)00465-8.Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle; 2001.Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle; 2001.Marin B, Boumédiene F, Logroscino G, Couratier P, Babron MC, Leutenegger AL et al. Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis. Int J Epidemiol. 2017;46(1):57–74. https://doi.org/10.1093/ije/dyw061.Marin B, Boumédiene F, Logroscino G, Couratier P, Babron MC, Leutenegger AL et al. Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis. Int J Epidemiol. 2017;46(1):57–74. https://doi.org/10.1093/ije/dyw061.Chiò A, Calvo A, Moglia C, Mazzini L, Mora G. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82(7):740–746. https://doi.org/10.1136/jnnp.2010.235952.Chiò A, Calvo A, Moglia C, Mazzini L, Mora G. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82(7):740–746. https://doi.org/10.1136/jnnp.2010.235952.Rothstein JD. Excitotoxicity and neurodegeneration in amyotrophic lateral sclerosis. Clin Neurosci. 1995;3(6):348–359.Rothstein JD. Excitotoxicity and neurodegeneration in amyotrophic lateral sclerosis. Clin Neurosci. 1995;3(6):348–359.Barber SC, Shaw PJ. Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. Free Radic Biol Med. 2010;48(5):629–641. https://doi.org/10.1016/j.freeradbiomed.2009.11.018.Barber SC, Shaw PJ. Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. Free Radic Biol Med. 2010;48(5):629–641. https://doi.org/10.1016/j.freeradbiomed.2009.11.018.Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314(5796):130–133. https://doi.org/10.1126/science.1134108.Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314(5796):130–133. https://doi.org/10.1126/science.1134108.Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81(4):385–390. https://doi.org/10.1136/jnnp.2009.183525.Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81(4):385–390. https://doi.org/10.1136/jnnp.2009.183525.Belbasis L, Bellou V, Evangelou E. Environmental Risk Factors and Amyotrophic Lateral Sclerosis: An Umbrella Review and Critical Assessment of Current Evidence from Systematic Reviews and MetaAnalyses of Observational Studies. Neuroepidemiology. 2016;46(2):96–105. https://doi.org/10.1159/000443146.Belbasis L, Bellou V, Evangelou E. Environmental Risk Factors and Amyotrophic Lateral Sclerosis: An Umbrella Review and Critical Assessment of Current Evidence from Systematic Reviews and MetaAnalyses of Observational Studies. Neuroepidemiology. 2016;46(2):96–105. https://doi.org/10.1159/000443146.Masrori P, Van Damme P. Amyotrophic lateral sclerosis: a clinical review. Eur J Neurol. 2020;27(10):1918–1929. https://doi.org/10.1111/ene.14393.Masrori P, Van Damme P. Amyotrophic lateral sclerosis: a clinical review. Eur J Neurol. 2020;27(10):1918–1929. https://doi.org/10.1111/ene.14393.Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020;131(8):1975–1978. https://doi.org/10.1016/j.clinph.2020.04.005.Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020;131(8):1975–1978. https://doi.org/10.1016/j.clinph.2020.04.005.Hannaford A, Pavey N, van den Bos M, Geevasinga N, Menon P, Shefner JM et al. Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis. Ann Neurol. 2021;89(5):979–986. https://doi.org/10.1002/ana.26045.Hannaford A, Pavey N, van den Bos M, Geevasinga N, Menon P, Shefner JM et al. Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis. Ann Neurol. 2021;89(5):979–986. https://doi.org/10.1002/ana.26045.de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119(3):497–503. https://doi.org/10.1016/j.clinph.2007.09.143.de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119(3):497–503. https://doi.org/10.1016/j.clinph.2007.09.143.Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1(5):293–299. https://doi.org/10.1080/146608200300079536.Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1(5):293–299. https://doi.org/10.1080/146608200300079536.Vucic S, Kiernan MC. Novel threshold tracking techniques suggest that cortical hyperexcitability is an early feature of motor neuron disease. Brain. 2006;129(9):2436–2446. https://doi.org/10.1093/brain/awl172.Vucic S, Kiernan MC. Novel threshold tracking techniques suggest that cortical hyperexcitability is an early feature of motor neuron disease. Brain. 2006;129(9):2436–2446. https://doi.org/10.1093/brain/awl172.Agosta F, Chiò A, Cosottini M, De Stefano N, Falini A, Mascalchi M et al. The present and the future of neuroimaging in amyotrophic lateral sclerosis. AJNR Am J Neuroradiol. 2010;31(10):1769–1777. https://doi.org/10.3174/ajnr.A2043.Agosta F, Chiò A, Cosottini M, De Stefano N, Falini A, Mascalchi M et al. The present and the future of neuroimaging in amyotrophic lateral sclerosis. AJNR Am J Neuroradiol. 2010;31(10):1769–1777. https://doi.org/10.3174/ajnr.A2043.Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A et al. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurol. 2018;17(5):423–433. https://doi.org/10.1016/S1474-4422(18)30089-9.Westeneng HJ, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A et al. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurol. 2018;17(5):423–433. https://doi.org/10.1016/S1474-4422(18)30089-9.Pirola A, De Mattia E, Lizio A, Sannicolò G, Carraro E, Rao F et al. The prognostic value of spirometric tests in Amyotrophic Lateral Sclerosis patients. Clin Neurol Neurosurg. 2019;184:105456. https://doi.org/10.1016/j.clineuro.2019.105456.Pirola A, De Mattia E, Lizio A, Sannicolò G, Carraro E, Rao F et al. The prognostic value of spirometric tests in Amyotrophic Lateral Sclerosis patients. Clin Neurol Neurosurg. 2019;184:105456. https://doi.org/10.1016/j.clineuro.2019.105456.Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. 1994;330(9):585–591. https://doi.org/10.1056/NEJM199403033300901.Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. 1994;330(9):585–591. https://doi.org/10.1056/NEJM199403033300901.Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;(3):CD001447. https://doi.org/10.1002/14651858.CD001447.pub3.Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;(3):CD001447. https://doi.org/10.1002/14651858.CD001447.pub3.Fang T, Al Khleifat A, Meurgey JH, Jones A, Leigh PN, Bensimon G et al. Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a doseranging study. Lancet Neurol. 2018;17(5):416–422. https://doi.org/10.1016/S1474-4422(18)30054-1.Fang T, Al Khleifat A, Meurgey JH, Jones A, Leigh PN, Bensimon G et al. Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a doseranging study. Lancet Neurol. 2018;17(5):416–422. https://doi.org/10.1016/S1474-4422(18)30054-1.Thakore NJ, Lapin BR, Mitsumoto H. Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle Nerve. 2022;66(6):702–708. https://doi.org/10.1002/mus.27724.Thakore NJ, Lapin BR, Mitsumoto H. Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle Nerve. 2022;66(6):702–708. https://doi.org/10.1002/mus.27724.Soriani MH, Desnuelle C. Care management in amyotrophic lateral sclerosis. Rev Neurol. 2017;173(5):288–299. https://doi.org/10.1016/j.neurol.2017.03.031.Soriani MH, Desnuelle C. Care management in amyotrophic lateral sclerosis. Rev Neurol. 2017;173(5):288–299. https://doi.org/10.1016/j.neurol.2017.03.031.Sawada H. Clinical efficacy of edaravone for the treatment of amyotrophic lateral sclerosis. Expert Opin Pharmacother. 2017;18(7):735–738. https://doi.org/10.1080/14656566.2017.1319937.Sawada H. Clinical efficacy of edaravone for the treatment of amyotrophic lateral sclerosis. Expert Opin Pharmacother. 2017;18(7):735–738. https://doi.org/10.1080/14656566.2017.1319937.Bhandari R, Kuhad A, Kuhad A. Edaravone: a new hope for deadly amyotrophic lateral sclerosis. Drugs Today. 2018;54(6):349–360. https://doi.org/10.1358/dot.2018.54.6.2828189.Bhandari R, Kuhad A, Kuhad A. Edaravone: a new hope for deadly amyotrophic lateral sclerosis. Drugs Today. 2018;54(6):349–360. https://doi.org/10.1358/dot.2018.54.6.2828189.Samadhiya S, Sardana V, Bhushan B, Maheshwari D, Goyal R. Assessment of Therapeutic Response of Edaravone and Riluzole Combination Therapy in Amyotrophic Lateral Sclerosis Patients. Ann Indian Acad Neurol. 2022;25(4):692–697. https://doi.org/10.4103/aian.aian_1083_21.Samadhiya S, Sardana V, Bhushan B, Maheshwari D, Goyal R. Assessment of Therapeutic Response of Edaravone and Riluzole Combination Therapy in Amyotrophic Lateral Sclerosis Patients. Ann Indian Acad Neurol. 2022;25(4):692–697. https://doi.org/10.4103/aian.aian_1083_21.Jaiswal MK. Riluzole and edaravone: A tale of two amyotrophic lateral sclerosis drugs. Med Res Rev. 2019;39(2):733–748. https://doi.org/10.1002/med.21528.Jaiswal MK. Riluzole and edaravone: A tale of two amyotrophic lateral sclerosis drugs. Med Res Rev. 2019;39(2):733–748. https://doi.org/10.1002/med.21528.Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol. 2012;19(3):360–375. https://doi.org/10.1111/j.1468-1331.2011.03501.x.Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol. 2012;19(3):360–375. https://doi.org/10.1111/j.1468-1331.2011.03501.x.Shoesmith C. Palliative care principles in ALS. Handb Clin Neurol. 2023;191:139–155. https://doi.org/10.1016/B978-0-12-824535-4.00007-0.Shoesmith C. Palliative care principles in ALS. Handb Clin Neurol. 2023;191:139–155. https://doi.org/10.1016/B978-0-12-824535-4.00007-0.Gianferrari G, Zucchi E, Martinelli I, Simonini C, Fini N, Ferro S et al. Trends in Hospital Admissions for Patients with Amyotrophic Lateral Sclerosis: Insights from a Retrospective Cohort Study in a Province in Northern Italy. Life. 2024;14(8):941. https://doi.org/10.3390/life14080941.Gianferrari G, Zucchi E, Martinelli I, Simonini C, Fini N, Ferro S et al. Trends in Hospital Admissions for Patients with Amyotrophic Lateral Sclerosis: Insights from a Retrospective Cohort Study in a Province in Northern Italy. Life. 2024;14(8):941. https://doi.org/10.3390/life14080941.

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