Russian Journal of Physiotherapy, Balneology and RehabilitationRussian Journal of Physiotherapy, Balneology and RehabilitationФизиотерапия, бальнеология и реабилитация1681-34562413-2969Eco-Vector8379910.17816/rjpbr83799ReviewОбзорыReview ArticleGeneral issues of spinal muscular atrophy (scientific review). Etiology, clinical features, approaches in rehabilitation and orthopedic treatmentОбщие вопросы спинальной мышечной атрофии (научный обзор). Этиология, клинические особенности, подходы в реабилитации и ортопедическом леченииhttps://orcid.org/0000-0001-7853-44738234-7005PonomarenkoGennady N.ПономаренкоГеннадий Николаевич
Russian Federation

MD, Dr. Sci. (Med.), Professor

д.м.н., профессор

mathiaslilmons@gmail.comhttps://orcid.org/0000-0002-0862-88262767-3392KoltsovAndrey A.КольцовАндрей Анатольевич
Russian Federation

MD, Cand. Sci. (Med.)

к.м.н.

mathiaslilmons@gmail.comMaltsevIvan S.МальцевИван Сергеевич
Russian Federation
mathiaslilmons@gmail.comFederal Scientific Center of Rehabilitation of the Disabled named after G.A. AlbrechtФедеральный научный центр реабилитации инвалидов имени Г.А. АльбрехтаFederal Scientific Center of Rehabilitation of the Disabled named after G.A. AlbrechtФедеральный научный центр реабилитации инвалидов имени Г.А. Альбрехта150720212043413552610202108052022Copyright ©; 2021, Ponomarenko G.N., Koltsov A.A., Maltsev I.S.Copyright ©; 2021, Пономаренко Г.Н., Кольцов А.А., Мальцев И.С.2021Ponomarenko G.N., Koltsov A.A., Maltsev I.S.Пономаренко Г.Н., Кольцов А.А., Мальцев И.С.https://creativecommons.org/licenses/by-nc-nd/4.0/https://rjpbr.com/1681-3456/article/view/83799

Spinal muscular atrophy is a significant medical and social problem and is one of the most common causes of child mortality caused by inherited neuromuscular diseases. The scientific review focuses on etiology, clinical features, as well as approaches in the rehabilitation and orthopedic treatment of patients with spinal muscular atrophy.

AIM: analysis of world literature on aspects of etiology, pathogenesis, clinical manifestations, approaches in rehabilitation and orthopedic treatment of patients with spinal muscular atrophy.

Search for literary sources in open electronic databases PubMed and eLIBRARY for the entire period available in these databases.

Spinal muscular atrophy is a heterogeneous group of hereditary diseases occurring with damage to the motor neurons of the anterior horns of the spinal cord. With predominant clinical signs in the form of muscle weakness, mainly in the lower extremities. Rehabilitation and orthopedic treatment should be carried out with a focus on the musculoskeletal system and related functional disorders

Analysis of various literary sources shows a rapid increase in the number of publications on spinal muscular atrophy, but a large layer of aspects remains that require clarification and more detailed study. A more detailed study of etiological factors, pathogenesis and clinical features of spinal muscular atrophy will allow a more extensive look at the problems of this disease in order to better understand the possible methods of diagnosis and treatment of patients with this pathology.

Спинальная мышечная атрофия является значимой медико-социальной проблемой и одной из наиболее частых причин детской смертности, вызванной наследственными нейромышечными заболеваниями. Научный обзор посвящён вопросам этиологии, клиническим особенностям, а также подходам в реабилитации и ортопедическом лечении пациентов со спинальной мышечной атрофией.

Цель исследования ― анализ мировой литературы по аспектам этиологии, патогенеза, клинических проявлений, подходам в реабилитации и ортопедическом лечении пациентов со спинальной мышечной атрофией.

Выполнен поиск литературных источников в открытых электронных базах PubMed и eLIBRARY за весь доступный период.

Спинальная мышечная атрофия является разнородной группой наследственных заболеваний, протекающих с поражением двигательных нейронов передних рогов спинного мозга, с преобладающими клиническими признаками в виде мышечной слабости, преимущественно в нижних конечностях. Реабилитация и ортопедическое лечение следует производить с акцентом на опорно-двигательную систему и связанные с ней функциональные нарушения.

Анализ различных литературных источников демонстрирует бурный рост числа публикаций о спинально-мышечной атрофии, однако остаётся большой пласт аспектов, требующих уточнения и более детального исследования. Подробное изучение этиологических факторов, клинических особенностей спинальной мышечной атрофии позволит более широко взглянуть на проблематику данного заболевания для лучшего понимания возможных методик диагностики и реабилитационного лечения пациентов с данной патологией.

spinal muscular atrophychildrencontracturesdystoniaatoniadeformitiesспинальная мышечная атрофиядетиконтрактурыдистонияатониядеформацииФГБУ ФНЦРИ им. Г.А. Альбрехта Минтруда РоссииFederal Scientific Center of Rehabilitation of the Disabled named after G.A. AlbrechtИсследование выполнено при финансовой поддержке (финансовом обеспечении) ФГБУ ФНЦРИ им. Г.А. Альбрехта Минтруда России.Werdnig G. Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage. Arch Psychiatr Nervenkr. 1891;22:437–480. doi: 10.1007/BF01776636Werdnig G. Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage // Arch Psychiatr Nervenkr. 1891. Vol. 22. Р. 437–480. doi: 10.1007/BF01776636Arnold ES, Fischbeck KH. Spinal muscular atrophy. Handb Clin Neurol. 2018;148:591–601. doi: 10.1016/B978-0-444-64076-5.00038-7Arnold E.S., Fischbeck K.H. Spinal muscular atrophy // Handb Clin Neurol. 2018. Vol. 148. P. 591–601. doi: 10.1016/B978-0-444-64076-5.00038-7Hoffmann J. Uеber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis. Dtsch Z Nervenheilkd. 1893;3:427–470. doi: 10.1007/BF01668496Hoffmann J. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis // Dtsch Z Nervenheilkd. 1893. Vol. 3. Р. 427–470. doi: 10.1007/BF01668496Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord. 2009;19(1):69–73. doi: 10.1016/j.nmd.2008.10.004Dubowitz V. Ramblings in the history of spinal muscular atrophy // Neuromuscul Disord. 2009. Vol. 19, N 1. Р. 69–73. doi: 10.1016/j.nmd.2008.10.004Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344(6266):540–541. doi: 10.1038/344540a0Brzustowicz L.M., Lehner T., Castilla L.H., et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 // Nature. 1990. Vol. 344, N 6266. Р. 540–41. doi: 10.1038/344540a0Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165. doi: 10.1016/0092-8674(95)90460-3Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene // Cell. 1995. Vol. 80, N 1. Р. 155–165. doi: 10.1016/0092-8674(95)90460-3Emery AE. The nosology of the spinal muscular atrophies. J Med Genet. 1971;8(4):481–495. doi: 10.1136/jmg.8.4.481Emery A.E. The nosology of the spinal muscular atrophies // J Med Genet. 1971. Vol. 8, N 4. P. 481–495. doi: 10.1136/jmg.8.4.481Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010;152A(7):1608–1616. doi: 10.1002/ajmg.a.33474Prior T.W., Snyder P.J., Rink B.D., et al. Newborn and carrier screening for spinal muscular atrophy // Am J Med Genet A. 2010. Vol. 152A, N 7. P. 1608–1616. doi: 10.1002/ajmg.a.33474SMA families. Simard L. Genetic basis of spinal muscular atrophy. (In Russ). Available from: http://f-sma.ru/39.html. Accessed: 15.12.2020.Семьи СМА. Симард Л. Генетические основы спинальной мышечной атрофии. Режим доступа: http://f-sma.ru/39.html. Дата обращения: 15.12.2020.Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32. doi: 10.1038/ejhg.2011.134Sugarman E.A., Nagan N., Zhu H., et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens // Eur J Hum Genet. 2012. Vol. 20, N 1. Р. 27–32. doi: 10.1038/ejhg.2011.134Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015;62(3):743–766. doi: 10.1016/j.pcl.2015.03.010Darras B.T. Spinal muscular atrophies // Pediatr Clin North Am. 2015. Vol. 62, N 3. P. 743–766. doi: 10.1016/j.pcl.2015.03.010Mercuri Е, Finkel R, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders. 2018;28(2):103–115. doi: 10.1016/j.nmd.2017.11.005Mercuri Е., Finkel R., Muntoni F., et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care // Neuromuscular Disorders. 2018. Vol. 28, N 2. P. 103–115. doi: 10.1016/j.nmd.2017.11.005Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord. 2009;19(1):69–73. doi: 10.1016/j.nmd.2008.10.004Dubowitz V. Ramblings in the history of spinal muscular atrophy // Neuromuscul Disord. 2009. Vol. 19, N 1. Р. 69–73. doi: 10.1016/j.nmd.2008.10.004Munsat TL. Workshop Report: International SMA collaboration. Neuromusc Disord. 1991;1:81.Munsat T.L. Workshop Report: International SMA collaboration // Neuromusc Disord. 1991. Vol. 1. P. 81.Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007;22(8):946–951. doi: 10.1177/0883073807305673Russman B.S. Spinal muscular atrophy: clinical classification and disease heterogeneity // J Child Neurol. 2007. Vol. 22, N 8. Р. 946–951. doi: 10.1177/0883073807305673Zerres K, Davies KE. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord. 1999;9(4):272–278. doi: 10.1016/s0960-8966(99)00016-4Zerres K., Davies K.E. 59th ENMC International Workshop. Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17–19 April 1998, Soestduinen, The Netherlands // Neuromuscul Disord. 1999. Vol. 9, N 4. Р. 272–278. doi: 10.1016/s0960-8966(99)00016-4Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999;3(2):49–51. doi: 10.1053/ejpn.1999.0181Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype // Eur J Paediatr Neurol. 1999. Vol. 3, N 2. Р. 49–51. doi: 10.1053/ejpn.1999.0181MacLeod MJ, Taylor JE, Lunt PW, et al. Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol. 1999;3(2):65–72. doi: 10.1053/ejpn.1999.0184MacLeod M.J., Taylor J.E., Lunt P.W., et al. Prenatal onset spinal muscular atrophy // Eur J Paediatr Neurol. 1999. Vol. 3, N 2. Р. 65–72. doi: 10.1053/ejpn.1999.0184Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999;3(2):49–51. doi: 10.1053/ejpn.1999.0181Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype // Eur J Paediatr Neurol. 1999. Vol. 3, N 2. Р. 49–51. doi: 10.1053/ejpn.1999.0181Felderhoff-Mueser U, Grohmann K, Harder A, et al. Severe spinal muscular atrophy variant associated with congenital bone fractures. J Child Neurol. 2002;17(9):718–721. doi: 10.1177/088307380201700915Felderhoff-Mueser U., Grohmann K., Harder A., et al. Severe spinal muscular atrophy variant associated with congenital bone fractures // J Child Neurol. 2002. Vol. 17, N 9. Р. 718–721. doi: 10.1177/088307380201700915Kelly TE, Amoroso K, Ferre M, et al. Spinal muscular atrophy variant with congenital fractures. Am J Med Genet. 1999;87(1):65–68. doi: 10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5Kelly T.E., Amoroso K., Ferre M., et al. Spinal muscular atrophy variant with congenital fractures // Am J Med Genet. 1999. Vol. 87, N 1. Р. 65–68. doi: 10.1002/(SICI)1096-8628(19991105)87:1<65::AID-AJMG13>3.0.CO;2-5Rudnik-Schöneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008;45(10):635–638. doi: 10.1136/jmg.2008.057950Rudnik-Schöneborn S., Heller R., Berg C., et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy // J Med Genet. 2008. Vol. 45, N 10. Р. 635–638. doi: 10.1136/jmg.2008.057950Shababi M, Habibi J, Yang HT, et al. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet. 2010;19(20):4059–4071. doi: 10.1093/hmg/ddq329Shababi M., Habibi J., Yang H.T., et al. Cardiac defects contribute to the pathology of spinal muscular atrophy models // Hum Mol Genet. 2010. Vol. 19, N 20. Р. 4059–4071. doi: 10.1093/hmg/ddq329Von Gontard A, Zerres K, Backes M, et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord. 2002;12(2):130–136. doi: 10.1016/s0960-8966(01)00274-7Von Gontard A., Zerres K., Backes M., et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy // Neuromuscul Disord. 2002. Vol. 12, N 2. Р. 130–136. doi: 10.1016/s0960-8966(01)00274-7Zerres K, Rudnik-Schöneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72. doi: 10.1016/s0022-510x(96)00284-5Zerres K., Rudnik-Schöneborn S., Forrest E., et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients // J Neurol Sci. 1997. Vol. 146, N 1. Р. 67–72. doi: 10.1016/s0022-510x(96)00284-5Kinali M, Banks LM, Mercuri E, et al. Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics. 2004;35:325–328. doi: 10.1055/s-2004-830366Kinali M., Banks L.M., Mercuri E., et al. Bone mineral density in a paediatric spinal muscular atrophy population // Neuropediatrics. 2004. Vol. 35. Р. 325–328. doi: 10.1055/s-2004-830366Khatri IA, Chaudhry US, Seikaly MG, et al. Low bone mineral density in spinal muscular atrophy. J Clin Neuromuscul Dis. 2008;10(1):11–17. doi: 10.1097/CND.0b013e318183e0faKhatri I.A., Chaudhry U.S., Seikaly M.G., et al. Low bone mineral density in spinal muscular atrophy // J Clin Neuromuscul Dis. 2008. Vol. 10, N 1. Р. 11–17. doi: 10.1097/CND.0b013e318183e0faShanmugarajan S, Tsuruga E, Swoboda KJ, et al. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy. J Pathol. 2009;219(1):52–60. doi: 10.1002/path.2566Shanmugarajan S., Tsuruga E., Swoboda K.J., et al. Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy // J Pathol. 2009. Vol. 219, N 1. Р. 52–60. doi: 10.1002/path.2566Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–523. doi: 10.1001/archneur.1995.00540290108025Zerres K., Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications // Arch Neurol. 1995. Vol. 52, N 5. Р. 518–523. doi: 10.1001/archneur.1995.00540290108025Piepers S, van den Berg LH, Brugman F, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol. 2008;255(9):1400–1404. doi: 10.1007/s00415-008-0929-0Piepers S., van den Berg L.H., Brugman F., et al. A natural history study of late onset spinal muscular atrophy types 3b and 4 // J Neurol. 2008. Vol. 255, N 9. Р. 1400–1404. doi: 10.1007/s00415-008-0929-0Glanzman AM, Mazzone E, Main M, et al. The children's hospital of philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20(3):155–161. doi: 10.1016/j.nmd.2009.11.014Glanzman A.M., Mazzone E., Main M., et al. The children's hospital of philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability // Neuromuscul Disord. 2010. Vol. 20, N 3. Р. 155–161. doi: 10.1016/j.nmd.2009.11.014Mazzone E, Bianco F, Martinelli D, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011;21(6):406–412. doi: 10.1016/j.nmd.2011.02.014Mazzone E., Bianco F., Martinelli D., et al. Assessing upper limb function in nonambulant SMA patients: development of a new module // Neuromuscul Disord. 2011. Vol. 21, N 6. Р. 406–412. doi: 10.1016/j.nmd.2011.02.014Vuillerot C, Payan C, Iwaz J, et al. MFM Spinal Muscular Atrophy Study Group Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil. 2013;94(8):1555–1561. doi: 10.1016/j.apmr.2013.01.014Vuillerot C., Payan C., Iwaz J., et al. MFM Spinal Muscular Atrophy Study Group Responsiveness of the motor function measure in patients with spinal muscular atrophy // Arch Phys Med Rehabil. 2013. Vol. 94, N 8. Р. 1555–1561. doi: 10.1016/j.apmr.2013.01.014Montes J, McDermott MP, Martens WB, et al. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74(10):833–838. doi: 10.1212/WNL.0b013e3181d3e308Montes J., McDermott M.P., Martens W.B., et al. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy // Neurology. 2010. Vol. 74, N 10. Р. 833–838. doi: 10.1212/WNL.0b013e3181d3e308Montes J, Garber CE, Kramer SS, et al. Single-blind, randomized, controlled clinical trial of exercise in ambulatory spinal muscular atrophy: why are the results negative? J Neuromuscul Dis. 2015;2(4):463–470. doi: 10.3233/JND-150101Montes J., Garber C.E., Kramer S.S., et al. Single-blind, randomized, controlled clinical trial of exercise in ambulatory spinal muscular atrophy: why are the results negative? // J Neuromuscul Dis. 2015. Vol. 2, N 4. Р. 463–470. doi: 10.3233/JND-150101Madsen KL, Hansen RS, Preisler N, et al. Training improves oxidative capacity, but not function, in spinal muscular atrophy type III. Muscle Nerve. 2015;52(2):240–244. doi: 10.1002/mus.24527Madsen K.L., Hansen R.S., Preisler N., et al. Training improves oxidative capacity, but not function, in spinal muscular atrophy type III // Muscle Nerve. 2015. Vol. 52, N 2. Р. 240–244. doi: 10.1002/mus.24527Lewelt A, Krosschell KJ, Stoddard GJ, et al. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015;52(4):559–567. doi: 10.1002/mus.24568Lewelt A., Krosschell K.J., Stoddard G.J., et al. Resistance strength training exercise in children with spinal muscular atrophy // Muscle Nerve. 2015. Vol. 52, N 4. Р. 559–567. doi: 10.1002/mus.24568Hartley S, Stockley R. It's more than just physical therapy: reported utilization of physiotherapy services for adults with neuromuscular disorders attending a specialist centre. Disabil Rehabil. 2013;35(4):282–290. doi: 10.3109/09638288.2012.691940Hartley S., Stockley R. It's more than just physical therapy: reported utilization of physiotherapy services for adults with neuromuscular disorders attending a specialist centre // Disabil Rehabil. 2013. Vol. 35, N 4. Р. 282–290. doi: 10.3109/09638288.2012.691940Fujak A, Kopschina C, Forst R, et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. Disabil Rehabil Assist Technol. 2011;6(4):305–311. doi: 10.3109/17483107.2010.525292Fujak A., Kopschina C., Forst R., et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients // Disabil Rehabil Assist Technol. 2011. Vol. 6, N 4. Р. 305–311. doi: 10.3109/17483107.2010.525292Cunha MC, Oliveira AS, Labronici RH, Gabbai AA. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool. Arq Neuropsiquiatr. 1996;54(3):402–406. doi: 10.1590/s0004-282x1996000300007Cunha M.C., Oliveira A.S., Labronici R.H., Gabbai A.A. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool // Arq Neuropsiquiatr. 1996. Vol. 54, N 3. Р. 402–406. doi: 10.1590/s0004-282x1996000300007Salem Y, Gropack SJ. Aquatic therapy for a child with type III spinal muscular atrophy: a case report. Phys Occup Ther Pediatr. 2010;30(4):313–324. doi: 10.3109/01942638.2010.493097Salem Y., Gropack S.J. Aquatic therapy for a child with type III spinal muscular atrophy: a case report // Phys Occup Ther Pediatr. 2010. Vol. 30, N 4. Р. 313–324. doi: 10.3109/01942638.2010.493097Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther. 2014;26(2):237–244. doi: 10.1097/PEP.0000000000000027Lemke D., Rothwell E., Newcomb T.M., Swoboda K.J. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy // Pediatr Phys Ther. 2014. Vol. 26, N 2. Р. 237–244. doi: 10.1097/PEP.0000000000000027Dunaway S, Montes J, O'Hagen J, et al. Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy. J Child Neurol. 2013;28(5):576–582. doi: 10.1177/0883073812449383Dunaway S., Montes J., O'Hagen J., et al. Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy // J Child Neurol. 2013. Vol. 28, N 5. Р. 576–582. doi: 10.1177/0883073812449383Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–1049. doi: 10.1177/0883073807305788Wang C.H., Finkel R.S., Bertini E.S., et al. Consensus statement for standard of care in spinal muscular atrophy // J Child Neurol. 2007. Vol. 22, N 8. Р. 1027–1049. doi: 10.1177/0883073807305788Sauvagnac-Quera R, Vabre C, Azzi V, et al. Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA. Ann Phys Rehabil Med. 2016;59:92. doi: 10.1016/j.rehab.2016.07.207Sauvagnac-Quera R., Vabre C., Azzi V., et al. Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA // Ann Phys Rehabil Med. 2016. Vol. 59. Р. 92. doi: 10.1016/j.rehab.2016.07.207Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443–452. doi: 10.1016/S1474-4422(12)70061-3Mercuri E., Bertini E., Iannaccone S.T. Childhood spinal muscular atrophy: controversies and challenges // Lancet Neurol. 2012. Vol. 11, N 5. Р. 443–452. doi: 10.1016/S1474-4422(12)70061-3Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120–2133. doi: 10.1016/S0140-6736(08)60921-6Lunn M.R., Wang C.H. Spinal muscular atrophy // Lancet. 2008. Vol. 371, N 9630. Р. 2120–2133. doi: 10.1016/S0140-6736(08)60921-6Fujak A, Kopschina C, Forst R, et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. Disabil Rehabil Assist Technol. 2011;6(4):305–311. doi: 10.3109/17483107.2010.525292Fujak A., Kopschina C., Forst R., et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients // Disabil Rehabil Assist Technol. 2011. Vol. 6, N 4. Р. 305–311. doi: 10.3109/17483107.2010.525292Catteruccia M, Vuillerot C, Vaugier I, et al. Orthopedic management of scoliosis by Garches Vrace and spinal fusion in SMA type 2 children. J Neuromuscul Dis. 2015;2(4):453–462. doi: 10.3233/JND-150084Catteruccia M., Vuillerot C., Vaugier I., et al. Orthopedic management of scoliosis by Garches Vrace and spinal fusion in SMA type 2 children // J Neuromuscul Dis. 2015. Vol. 2, N 4. Р. 453–462. doi: 10.3233/JND-150084Mesfin A, Sponseller PD, Leet AI. Spinal muscular atrophy: manifestations and management. J Am Acad Orthop Surg. 2012;20(6):393–401. doi: 10.5435/JAAOS-20-06-393Mesfin A., Sponseller P.D., Leet A.I. Spinal muscular atrophy: manifestations and management // J Am Acad Orthop Surg. 2012. Vol. 20, N 6. Р. 393–401. doi: 10.5435/JAAOS-20-06-393Phillips DP, Roye DP, Farcy JP, et al. Surgical treatment of scoliosis in a spinal muscular atrophy population. Spine. 1990;15(9):942–945. doi: 10.1097/00007632-199009000-00019Phillips D.P., Roye D.P., Farcy J.P., et al. Surgical treatment of scoliosis in a spinal muscular atrophy population // Spine. 1990. Vol. 15, N 9. Р. 942–945. doi: 10.1097/00007632-199009000-00019Sponseller PD, Yang JS, Thompson GH, et al. Pelvic fixation of growing rods: comparison of constructs. Spine. 2009;34(16):1706–1710. doi: 10.1097/BRS.0b013e3181ab240eSponseller P.D., Yang J.S., Thompson G.H., et al. Pelvic fixation of growing rods: comparison of constructs // Spine. 2009. Vol. 34, N 16. Р. 1706–1710. doi: 10.1097/BRS.0b013e3181ab240eChng SY, Wong YQ, Hui JH, et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health. 2003;39(9):673–676. doi: 10.1046/j.1440-1754.2003.00266.xChng S.Y., Wong Y.Q., Hui J.H., et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III // J Paediatr Child Health. 2003. Vol. 39, N 9. Р. 673–676. doi: 10.1046/j.1440-1754.2003.00266.xModi HN, Suh SW, Hong JY, et al. Surgical correction of paralytic neuromuscular scoliosis with poor pulmonary functions. J Spinal Disord Tech. 2011;24(5):325–333. doi: 10.1097/BSD.0b013e3181f9f6fcModi H.N., Suh S.W., Hong J.Y., et al. Surgical correction of paralytic neuromuscular scoliosis with poor pulmonary functions // J Spinal Disord Tech. 2011. Vol. 24, N 5. Р. 325–333. doi: 10.1097/BSD.0b013e3181f9f6fcSporer SM, Smith BG. Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23(1):10–14.Sporer S.M., Smith B.G. Hip dislocation in patients with spinal muscular atrophy // J Pediatr Orthop. 2003. Vol. 23, N 1. Р. 10–14.McElroy MJ, Shaner AC, Crawford TO, et al. Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays. Spine. 2011;36(16):1305–1311. doi: 10.1097/BRS.0b013e3182194937McElroy M.J., Shaner A.C., Crawford T.O., et al. Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays // Spine. 2011. Vol. 36, N 16. Р. 1305–1311. doi: 10.1097/BRS.0b013e3182194937Chandran S, McCarthy J, Noonan K, et al. Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. J Pediatr Orthop. 2011;31(4):450–454. doi: 10.1097/BPO.0b013e31821722b1Chandran S., McCarthy J., Noonan K., et al. Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report // J Pediatr Orthop. 2011. Vol. 31, N 4. Р. 450–454. doi: 10.1097/BPO.0b013e31821722b1Fujak A, Ingenhorst A, Heuser K, et al. Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood. Ortop Traumatol Rehabil. 2005;7(2):175–179.Fujak A., Ingenhorst A., Heuser K., et al. Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood // Ortop Traumatol Rehabil. 2005. Vol. 7, N 2. Р. 175–179.Anari JB, Spiegel DA, Baldwin KD. Neuromuscular scoliosis and pelvic fixation in 2015: where do we stand? World J Orthop. 2015;6(8):564–566. doi: 10.5312/wjo.v6.i8.564Anari J.B., Spiegel D.A., Baldwin K.D. Neuromuscular scoliosis and pelvic fixation in 2015: where do we stand? // World J Orthop. 2015. Vol. 6, N 8. Р. 564–566. doi: 10.5312/wjo.v6.i8.564Odent T, Ilharreborde B, Miladi L, et al. Fusionless surgery in early-onset scoliosis. Orthop Traumatol Surg Res. 2015;101 (6 Suppl):S281–S288. doi: 10.1016/j.otsr.2015.07.004Odent T., Ilharreborde B., Miladi L., et al. Fusionless surgery in early-onset scoliosis // Orthop Traumatol Surg Res. 2015. Vol. 101, N 6, Suppl. Р. S281–S288. doi: 10.1016/j.otsr.2015.07.004Yoon WW, Sedra F, Shah S, et al. Improvement of pulmonary function in children with early-onset scoliosis using magnetic growth rods. Spine. 2014;39(15):1196–1202. doi: 10.1097/BRS.0000000000000383Yoon W.W., Sedra F., Shah S., et al. Improvement of pulmonary function in children with early-onset scoliosis using magnetic growth rods // Spine. 2014. Vol. 39, N 15. Р. 1196–1202. doi: 10.1097/BRS.0000000000000383Figueiredo N, Kananeh SF, Siqueira HH, et al. The use of magnetically controlled growing rod device for pediatric scoliosis. Neurosciences (Riyadh). 2016;21(1):17–25. doi: 10.17712/nsj.2016.1.20150266Figueiredo N., Kananeh S.F., Siqueira H.H., et al. The use of magnetically controlled growing rod device for pediatric scoliosis // Neurosciences (Riyadh). 2016. Vol. 21, N 1. Р. 17–25. doi: 10.17712/nsj.2016.1.20150266La Rosa G, Oggiano L, Ruzzini L. Magnetically controlled growing rods for the management of early-onset scoliosis: a preliminary report. J Pediatr Orthop. 2017;37(2):79–85. doi: 10.1097/BPO.0000000000000597La Rosa G., Oggiano L., Ruzzini L. Magnetically controlled growing rods for the management of early-onset scoliosis: a preliminary report // J Pediatr Orthop. 2017. Vol. 37, N 2. Р. 79–85. doi: 10.1097/BPO.0000000000000597Dannawi Z, Altaf F, Harshavardhana NS, et al. Early results of a remotely-operated magnetic growth rod in early-onset scoliosis. Bone Joint J. 2013;95B(1):75–80. doi: 10.1302/0301-620X.95B1.29565Dannawi Z., Altaf F., Harshavardhana N.S., et al. Early results of a remotely-operated magnetic growth rod in early-onset scoliosis // Bone Joint J. 2013. Vol. 95B, N 1. Р. 75–80. doi: 10.1302/0301-620X.95B1.29565Cheung KM, Cheung JP, Samartzis D, et al. Magnetically controlled growing rods for severe spinal curvature in young children: a prospective case series. Lancet. 2012;379(9830):1967–1974. doi: 10.1016/S0140-6736(12)60112-3Cheung K.M., Cheung J.P., Samartzis D., et al. Magnetically controlled growing rods for severe spinal curvature in young children: a prospective case series // Lancet. 2012. Vol. 379, N 9830. Р. 1967–1974. doi: 10.1016/S0140-6736(12)60112-3Fujak A, Raab W, Schuh A, et al. Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. Arch Orthop Trauma Surg. 2012;132(12):1697–1706. doi: 10.1007/s00402-012-1610-8Fujak A., Raab W., Schuh A., et al. Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients // Arch Orthop Trauma Surg. 2012. Vol. 132, N 12. Р. 1697–1706. doi: 10.1007/s00402-012-1610-8Livingston K, Zurakowski D, Snyder B. Growing Spine Study GroupChildren's Spine Study Group. Parasol rib deformity in hypotonic neuromuscular scoliosis: a new radiographical definition and a comparison of short-term treatment outcomes with VEPTR and growing rods. Spine. 2015;40(13):E780–E786. doi: 10.1097/BRS.0000000000000911Livingston K., Zurakowski D., Snyder B. Growing Spine Study Group Children's Spine Study Group. Parasol rib deformity in hypotonic neuromuscular scoliosis: a new radiographical definition and a comparison of short-term treatment outcomes with VEPTR and growing rods // Spine. 2015. Vol. 40, N 13. Р. E780–E786. doi: 10.1097/BRS.0000000000000911Fujak A, Raab W, Schuh A, et al. Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. BMC Musculoskelet Disord. 2013;14:283. doi: 10.1186/1471-2474-14-283Fujak A., Raab W., Schuh A., et al. Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients // BMC Musculoskelet Disord. 2013. Vol. 14. Р. 283. doi: 10.1186/1471-2474-14-283Mills B, Bach JR, Zhao C, et al. Posterior spinal fusion in children with flaccid neuromuscular scoliosis: the role of noninvasive positive pressure ventilatory support. J Pediatr Orthop. 2013;33(5):488–493. doi: 10.1097/BPO.0b013e318287058fMills B., Bach J.R., Zhao C., et al. Posterior spinal fusion in children with flaccid neuromuscular scoliosis: the role of noninvasive positive pressure ventilatory support // J Pediatr Orthop. 2013. Vol. 33, N 5. Р. 488–493. doi: 10.1097/BPO.0b013e318287058fZenios M, Sampath J, Cole C, et al. Operative treatment for hip subluxation in spinal muscular atrophy. J Bone Joint Surg Br. 2005;87(11):1541–1544. doi: 10.1302/0301-620X.87B11.16216Zenios M., Sampath J., Cole C., et al. Operative treatment for hip subluxation in spinal muscular atrophy // J Bone Joint Surg Br. 2005. Vol. 87, N 11. Р. 1541–1544. doi: 10.1302/0301-620X.87B11.16216Haaker G, Fujak A. Proximal spinal muscular atrophy: current orthopedic perspective. Appl Clin Genet. 2013;6(11):113–120. doi: 10.2147/TACG.S53615Haaker G., Fujak A. Proximal spinal muscular atrophy: current orthopedic perspective // Appl Clin Genet. 2013. Vol. 6, N 11. Р. 113–120. doi: 10.2147/TACG.S53615Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):675–687. doi: 10.1016/j.pmr.2012.06.009Skalsky A.J., McDonald C.M. Prevention and management of limb contractures in neuromuscular diseases // Phys Med Rehabil Clin N Am. 2012. Vol. 23, N 3. Р. 675–687. doi: 10.1016/j.pmr.2012.06.009Muqit MM, Moss J, Sewry C, Lane RJ. Phenotypic variability in siblings with type III spinal muscular atrophy. J Neurol Neurosurg Psychiatry. 2004;75(12):1762–1764. doi: 10.1136/jnnp.2003.018614Muqit M.M., Moss J., Sewry C., Lane R.J. Phenotypic variability in siblings with type III spinal muscular atrophy // J Neurol Neurosurg Psychiatry. 2004. Vol. 75, N 12. Р. 1762–1764. doi: 10.1136/jnnp.2003.018614Cunha MC, Oliveira AS, Labronici RH, Gabbai AA. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool. Arq Neuropsiquiatr. 1996;54(3):402–406. doi: 10.1590/s0004-282x1996000300007Cunha M.C., Oliveira A.S., Labronici R.H., Gabbai A.A. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool // Arq Neuropsiquiatr. 1996. Vol. 54, N 3. Р. 402–406. doi: 10.1590/s0004-282x1996000300007Salem Y, Gropack SJ. Aquatic therapy for a child with type III spinal muscular atrophy: a case report. Phys Occup Ther Pediatr. 2010;30(4):313–324. doi: 10.3109/01942638.2010.493097Salem Y., Gropack S.J. Aquatic therapy for a child with type III spinal muscular atrophy: a case report // Phys Occup Ther Pediatr. 2010. Vol. 30, N 4. Р. 313–324. doi: 10.3109/01942638.2010.493097Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther. 2014;26(2):237–244. doi: 10.1097/PEP.0000000000000027Lemke D., Rothwell E., Newcomb T.M., Swoboda K.J. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy // Pediatr Phys Ther. 2014. Vol. 26, N 2. Р. 237–244. doi: 10.1097/PEP.0000000000000027Dunaway S, Montes J, O'Hagen J, et al. Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy. J Child Neurol. 2013;28(5):576–582. doi: 10.1177/0883073812449383Dunaway S., Montes J., O'Hagen J., et al. Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy // J Child Neurol. 2013. Vol. 28, N 5. Р. 576–582. doi: 10.1177/0883073812449383Fujak A, Kopschina C, Gras F, et al. Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil. 2010;12(5):410–419.Fujak A., Kopschina C., Gras F., et al. Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection // Ortop Traumatol Rehabil. 2010. Vol. 12, N 5. Р. 410–419.Wang HY, Ju YH, Chen SM, et al. Joint range of motion limitations in children and young adults with spinal muscular atrophy. Arch Phys Med Rehabil. 2004;85(10):1689–1693. doi: 10.1016/j.apmr.2004.01.043Wang H.Y., Ju Y.H., Chen S.M., et al. Joint range of motion limitations in children and young adults with spinal muscular atrophy // Arch Phys Med Rehabil. 2004. Vol. 85, N 10. Р. 1689–1693. doi: 10.1016/j.apmr.2004.01.043Seliverstov YA, Klyushnikov SA, Illarioshkin SN. Spinal muscular atrophy: concept, differential diagnosis, treatment prospects. Nervous Diseases. 2015;(3):9–17. (In Russ).Селивёрстов Ю.А., Клюшников С.А., Иллариошкин С.Н. Спинальные мышечные атрофии: понятие, дифференциальная диагностика, перспективы лечения // Нервные болезни. 2015. № 3. С. 9–17.