Browse > Article
http://dx.doi.org/10.5734/JGM.2020.17.2.55

Rehabilitation of spinal muscular atrophy: current consensus and future direction  

Yi, You Gyoung (Department of Rehabilitation Medicine, National Traffic Injury Rehabilitation Hospital)
Shin, Hyung-Ik (Department of Rehabilitation, Seoul National University Hospital, Seoul National University College of Medicine)
Jang, Dae-Hyun (Department of Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
Publication Information
Journal of Genetic Medicine / v.17, no.2, 2020 , pp. 55-61 More about this Journal
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular disease that requires multidisciplinary medical care, including rehabilitation management. The emergence of a genetic therapy-based approach for SMA has markedly changed the disease course. Nonetheless, currently, updated physical therapy and rehabilitation are warranted for individuals with SMA in the era of gene therapy. In this review, we discuss the physical therapy and rehabilitation strategies currently performed for people with SMA, such as positioning and bracing, supported standing, management of musculoskeletal deformities, stretching, physical exercise training like aerobics and strengthening exercises, assistive devices, pulmonary rehabilitation, and dysphagia treatment.
Keywords
Spinal muscular atrophy; Rehabilitation; Assistive device; Exercise;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Sumner CJ, Fischbeck KH. Spinal muscular atrophy. In: Gilman S, ed. Neurobiology of disease. Cambridge: Academic Press, 2007;501-11.
2 Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012;11:443-52.   DOI
3 Stepien A, Mazurkiewicz L, Maslanko K, Rekowski W, Jedrzejowska M. Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy. BMC Musculoskelet Disord 2020;21:726.   DOI
4 Montes J, Young SD, Mazzone E, Main M. First international workshop on rehabilitation management and clinical outcome measures for spinal muscular atrophy. Neuromuscul Disord 2017;27:964-9.   DOI
5 Sheikh AM, Vissing J. Exercise therapy for muscle and lower motor neuron diseases. Acta Myol 2019;38:215-32.
6 Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, et al. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med 2016;9:35-44.   DOI
7 Rahman T, Sample W, Seliktar R, Scavina MT, Clark AL, Moran K, et al. Design and testing of a functional arm orthosis in patients with neuromuscular diseases. IEEE Trans Neural Syst Rehabil Eng 2007;15:244-51.   DOI
8 Biondi O, Grondard C, Lecolle S, Deforges S, Pariset C, Lopes P, et al. Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse. J Neurosci 2008;28:953-62.   DOI
9 Chali F, Desseille C, Houdebine L, Benoit E, Rouquet T, Bariohay B, et al. Long-term exercise-specific neuroprotection in spinal muscular atrophy-like mice. J Physiol 2016;594:1931-52.   DOI
10 Bartels B, Montes J, van der Pol WL, de Groot JF. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev 2019;3:CD012120.
11 Preisler N, Andersen G, Thogersen F, Crone C, Jeppesen TD, Wibrand F, et al. Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). Neurology 2009;72:317-23.   DOI
12 Sporer SM, Smith BG. Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop 2003;23:10-4.   DOI
13 Lewelt A, Krosschell KJ, Stoddard GJ, Weng C, Xue M, Marcus RL, et al. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve 2015;52:559-67.   DOI
14 Ng SY, Manta A, Ljubicic V. Exercise biology of neuromuscular disorders. Appl Physiol Nutr Metab 2018;43:1194-206.   DOI
15 Montes J, Garber CE, Kramer SS, Montgomery MJ, Dunaway S, Kamil-Rosenberg 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;2:463-70.   DOI
16 Madsen KL, Hansen RS, Preisler N, Thogersen F, Berthelsen MP, Vissing J. Training improves oxidative capacity, but not function, in spinal muscular atrophy type III. Muscle Nerve 2015;52:240-4.   DOI
17 Bora G, Subasi-Yildiz S, Yesbek-Kaymaz A, Bulut N, Alemdaroglu I, Tunca-Yilmaz O, et al. Effects of arm cycling exercise in spinal muscular atrophy type II patients: a pilot study. J Child Neurol 2018;33:209-15.   DOI
18 Grondard C, Biondi O, Armand AS, Lecolle S, Della Gaspera B, Pariset C, et al. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse. J Neurosci 2005;25:7615-22.   DOI
19 Heje K, Andersen G, Buch A, Andersen H, Vissing J. High-intensity training in patients with spinal and bulbar muscular atrophy. J Neurol 2019;266:1693-7.   DOI
20 Ng SY, Mikhail A, Ljubicic V. Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice. J Physiol 2019;597:4757-78.   DOI
21 Essers J, Murgia A, Peters A, Meijer K. Daily life benefits and usage characteristics of dynamic arm supports in subjects with neuromuscular disorders. Sensors (Basel) 2020;20:4864.   DOI
22 Essers JMN, Murgia A, Peters AA, Janssen MMHP, Meijer K. Recommendations for studies on dynamic arm support devices in people with neuromuscular disorders: a scoping review with expert-based discussion. Disabil Rehabil Assist Technol 2020, in press.
23 Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol 2002;34:16-22.   DOI
24 Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014;83:810-7.   DOI
25 Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics 2009;123 Suppl 4:S245-9.   DOI
26 Stehling F, Bouikidis A, Schara U, Mellies U. Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders. Chron Respir Dis 2015;12:31-5.   DOI
27 Choi YA, Suh DI, Chae JH, Shin HI. Trajectory of change in the swallowing status in spinal muscular atrophy type I. Int J Pediatr Otorhinolaryngol 2020;130:109818.   DOI
28 Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al.; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28:103-15.   DOI
29 Yi YG, Oh BM, Yang S, Shin HI. Oral feeding challenges in children with tracheostomy can improve feeding outcomes, even with the finding of aspiration. Front Pediatr 2019;7:362.   DOI
30 Jones MA, McEwen IR, Hansen L. Use of power mobility for a young child with spinal muscular atrophy. Phys Ther 2003;83:253-62.   DOI
31 Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al.; CHERISH Study Group. Nusinersen versus Sham control in later-onset spinal muscular atrophy. N Engl J Med 2018;378:625-35.   DOI
32 Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.   DOI
33 Czech C, Tang W, Bugawan T, Mano C, Horn C, Iglesias VA, et al. Biomarker for spinal muscular atrophy: expression of SMN in peripheral blood of SMA patients and healthy controls. PLoS One 2015;10:e0139950.   DOI
34 Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, et al.; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol 2017;82:883-91.   DOI
35 Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol 2001;45:174-81.   DOI
36 Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al.; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027-49.   DOI
37 Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, et al. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry 2020;91:1166-74.   DOI
38 Lavie M, Diamant N, Cahal M, Sadot E, Be'er M, Fattal-Valevski A, et al. Nusinersen for spinal muscular atrophy type 1: real-world respiratory experience. Pediatr Pulmonol 2021;56:291-8.   DOI
39 Castro D, Iannaccone ST. Spinal muscular atrophy: therapeutic strategies. Curr Treat Options Neurol 2014;16:316.   DOI
40 Rathore FA, Afridi A. Does physical exercise training improve functional performance in type 3 spinal muscular atrophy? A Cochrane Review summary with commentary. Dev Med Child Neurol 2020;62:1014-6.   DOI
41 Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al.; ENDEAR Study Group. Nusinersen versus Sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017;377:1723-32.   DOI
42 Hully M, Barnerias C, Chabalier D, Le Guen S, Germa V, Deladriere E, et al. Palliative care in SMA type 1: a prospective multicenter French study based on parents' reports. Front Pediatr 2020;8:4.   DOI
43 Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, et al.; CS2 and CS12 Study Groups. Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. Muscle Nerve 2019;60:409-14.   DOI
44 Gomez-Garcia de la Banda M, Amaddeo A, Khirani S, Pruvost S, Barnerias C, Dabaj I, et al. Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen. Pediatr Pulmonol 2021;56:299-306.   DOI
45 Vu-Han TL, Weiss C, Pumberger M. Novel therapies for spinal muscular atrophy are likely changing the patient phenotype. Spine J 2020;20:1893-8.   DOI
46 Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Lofra RM, et al.; international SMA consortium (iSMAc). Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology 2020, in press.
47 Stevens D, Claborn MK, Gildon BL, Kessler TL, Walker C. Onasemnogene abeparvovec-xioi: gene therapy for spinal muscular atrophy. Ann Pharmacother 2020;54:1001-9.   DOI
48 Waldrop MA, Karingada C, Storey MA, Powers B, Iammarino MA, Miller NF, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes. Pediatrics 2020;146:e20200729.   DOI
49 Brown JE, Thompson M, Brizzolara K. Head control changes after headpod use in children with poor head control: a feasibility study. Pediatr Phys Ther 2018;30:142-8.   DOI
50 Garg S. Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: a literature review. J Pediatr Rehabil Med 2016;9:23-9.   DOI
51 Townsend EL, Simeone SD, Krosschell KJ, Zhang RZ, Swoboda KJ; Project Cure SMA Investigator's Network. Stander use in spinal muscular atrophy: results from a large natural history database. Pediatr Phys Ther 2020;32:235-41.   DOI