Efficacy of Rehabilitation Interventions in Children with Spinal Muscular Atrophy to Improve Their Motor Function: Systematic Review

Abstract

Spinal Muscular Atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness and atrophy due to motor neuron degeneration. Rehabilitation plays a crucial role in managing the disease and improving quality of life. This systematic review aims to investigate the effectiveness of specific rehabilitation interventions in improving motor function, including muscle strength, lung function, and range of motion, for individuals with SMA. A systematic literature search was conducted in major databases (CINAHL, PubMed, MEDLINE, Scopus, and PEDro) from 2014 to 2024 using relevant keywords. Five studies met the inclusion criteria. The findings suggest that physical therapy, occupational therapy, and transcutaneous spinal cord stimulation (tSCS) combined with physiotherapy demonstrated the most positive effects on gross and fine motor function, muscle strength, and respiratory function in SMA patients. However, the overall quality of evidence was moderate, with key limitations including small sample sizes, high heterogeneity in study design, and lack of blinding in some trials. While rehabilitation interventions show promise, further well-designed randomized controlled trials with larger sample sizes are needed to strengthen the evidence base and optimize rehabilitation strategies for this populations.

References

1. 1.Ribero VA, Daigl M, Martí Y, Gorni K, Evans R, Scott DA, et al. How does risdiplam compare with other treatments for types 1–3 spinal muscular atrophy: a systematic literature review and indior combination therapies: a systematic Paediatr Neurol. 2022;39:1–10.
2. 2.Paracha N, Hudson P, Mitchell S, Sutherland CS. Systematic literature review to assess the cost and resource use associated with spinal muscular atrophy management. Pharmacoeconomics. 2022;1–28.
3. 3.Macleod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol. 1999;3(2):65–72.
4. 4.Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc. 1999;3(2):49–51. rect treatment comparison. J Comp Eff 7. Zerres K, Rudnik-Schöneborn S. NatRes. 2022;11(5):347–70.
5. 5.Paracha N, Hudson P, Mitchell S, Sutherland CS. Systematic literature review to assess economic evaluations in spinal muscular atrophy (SMA). Pharmacoeconomics. 2021;1–21.
6. 6.Erdos J, Wild C. Mid-and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, 246 ural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23.
7. 7.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. Efficacy of Rehabilitation Interventions in Children with Spinal Muscular Atrophy to Improve Their Motor Function: Systematic Review Majmaah Journal of Health Sciences ,Vol. 13, Issue 4, October - 2025, Rabi - Al-thani - 1447 2014;83(9):810–7.
8. 8.Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0–4. J Neurol Neurosurg Psychiatry. 2017;88(4):365–7. spinal muscular atrophy: Part 2: Pul- 14. Zerres K, Rudnik-Schöneborn S, Formonary and acute care; medications, rest E, Lusakowska A, Borkowska J, organ systems; and ethics. Neuromusorative study on the natural history of supplements and immunizations; other cul Disord. 2018;28(3):197–207.
9. 9.Von Gontard A, Zerres K, Backes M, Laufersweiler-Plass C, Wendland C, Melchers P, et al. Intelligence and cog- Hausmanowa-Petrusewicz I. A collabchildhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72. nitive function in children and ado- 15. Rabea F, El Naofal M, Chekroun I, lescents with spinal muscular atrophy. Khalaf M, Zaabi N Al, AlZaabi K, et
10. 10.idemiology and the case for premarital Neuromuscul Disord. 2002;12(2):130–
11. 11.Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, et al. Spinal muscular atrophy genetic epgenomic screening in Arab populations. Commun Med. 2024;4(1):119. al. Patterns of disease progression in 16. Verhaart IEC, Robertson A, Leary R, type 2 and 3 SMA: implications for McMacken G, König K, Kirschner 2016;26(2):126–31. determine SMA incidence and reclinical trials. Neuromuscul Disord.
12. 12.Al Jumah M, Al Rajeh S, Eyaid W, Al‐ Jedai A, Al Mudaiheem H, Al Shehri A, et al. Spinal muscular atrophy carrier frequency in Saudi Arabia. Mol Genet Genomic Med. 2022;10(11):e2049.
13. 13.Ponomarev AS, Chulpanova DS, Yanygina LM, Solovyeva V V., Rizvanov AA. Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape. Int J Mol Sci. 2023;24(18).
14. 14.Cutrona C, De Sanctis R, Coratti G, Capasso A, Ricci M, Stanca G, et al. Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data. J Neuromuscul Dis. 2024;(Preprint):1–6.
15. 15.Glanzman AM, O’Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011;26(12):1499–507.
16. 16.Pera MC, Luigetti M, Pane M, Coratti G, Forcina N, Fanelli L, et al. 6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction. 248 Neuromuscul Disord. 2017;27(10):879–82.
17. 17.Coratti G, Pera MC, Montes J, Scoto M, Pasternak A, Bovis F, et al. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscul 2022;32(1):36–42. Disord.
18. 18.Trenkle J, Brugman J, Peterson A, Roback K, Krosschell KJ. Filling the gaps in knowledge translation: physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Neuromuscul Disord. 2021;31(5):397–408.
19. 19.Yi YG, Shin H-I, Jang D-H. Rehabilitation of spinal muscular atrophy: current consensus and future direction. J Genet Med. 2020;17(2):55–61.
20. 20.Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–15.
21. 21.Taylor S, Novak I, Jackman M. Supporting Functional Goals in Spinal Muscular Atrophy: A Case Report of The Cognitive Orientation to Daily Occupational Performance (CO-OP) Efficacy of Rehabilitation Interventions in Children with Spinal Muscular Atrophy to Improve Their Motor Function: Systematic Review Majmaah Journal of Health Sciences ,Vol. 13, Issue 4, October - 2025, Rabi - Al-thani - 1447 Approach. Future. 2024;2(2):46–55.
22. 22.Lagae L, Proesmans M, Van den Hau- PRISMA statement. Ann Intern Med. 2009;151(4):264–9. we M, Vermeulen F, De Waele L, 33. Moseley AM, Szikszay TM, Lin C-W, Boon M. Respiratory morbidity in pa- Mathieson S, Elkins MR, Herbert changing world in the light of dismeasurement properties and usage of tients with spinal muscular atrophy—a ease-modifying therapies. Front Pediatr. 2024;12:1366943.
23. 23.Катикова ОЮ. Место RD, et al. A systematic review of the the Physiotherapy Evidence Database (PEDRO) scale. Physiotherapy. 2015;101:e1043. реабилитации в ведении детей со 34. Herbert R, Sherrington C, Moseспинальной мышечной атрофией. Реабилитология. 2024;2(2):227–46. ley A, Maher C. PEDro. Man Ther. 2000;5(1):49.
24. 24.Ahmed F, Islam A, Akter S, Al Zu- 35. Montes J, Garber CE, Kramer SS, bayer MA, Mahmud MN, Yeasmin H, Montgomery MJ, Dunaway S, Kabilitation program of individuals with randomized, controlled clinical trial of et al. Multidisciplinary physical rehaspinal muscular atrophy in an inclusive school setting. J Pediatr Rehabil Med. 2024;17(2):247–52. mil-Rosenberg S, et al. Single-blind, exercise in ambulatory spinal muscular atrophy: why are the results negative? J Neuromuscul Dis. 2015;2(4):463–70.
25. 25.Aponte Ribero V, Martí Y, Batson S, 36. Yağcıoğlu GA, Bulut N, Uğur F, Gürbüz Mitchell S, Gorni K, Gusset N, et al. İA, Karaduman AA, Yılmaz Ö. Long- Natural History of Spinal Muscu- Physiotherapy in Spinal Muscular At- Systematic Literature Review of the lar Atrophy: Motor Function, Scoliosis, and Contractures. Neurology. 2023;101(21):e2103–13.
26. 26.Moher D, Liberati A, Tetzlaff J, Altman DG, PRISMA Group* the. Preferred reporting items for systematic reviews and meta-analyses: the Term Effects of Nusinersen Combined rophy Type 1: A Case Study. J Dr Behcet Uz Child Hosp. 2022;12(1).
27. 27.Novikov A, Maldova M, Shandybina N, Shalmiev I, Shoshina E, Epoyan N, et al. First Use of Non-Invasive Spinal Cord Stimulation in Motor Rehabilitation of Children with Spinal Muscu- Efficacy of Rehabilitation Interventions in Children with Spinal Muscular Atrophy to Improve Their Motor Function: Systematic Review 249 Majmaah Journal of Health Sciences ,Vol. 13, Issue 4, October - 2025, Rabi - Al-thani - 1447 lar Atrophy. Life. 2023;13(2):449.
28. 28.Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, et al. A random- Clinical Practice Guideline and Expert Panel Report. Chest. 2023;164(2):394–
29. 29.ized controlled trial of exercise in spinal 44. Prior TW, Leach ME, Finanger EL. and bulbar muscular atrophy. Ann Clin Transl Neurol. 2015;2(7):739–47. Spinal muscular atrophy. GeneReviews®[Internet]. 2024;
30. 30.Krutikova N, Moshonkina T. Non-In- 45. Zhang W, Feng Y, Yan Y, Yao M, Gao vasive Spinal Cord Stimulation for F, Lin W, et al. Health information lit- Spinal Muscular Atrophy Treated with cular atrophy and their caregivers. Ital J Motor Rehabilitation of Patients with Orphan Drugs. 2024; eracy among children with spinal musPediatr. 2024;50(1):157.
31. 31.Shahid J, Kashif A, Shahid MK. A comprehensive review of physical therapy interventions for stroke rehabilitation: impairment-based approaches and functional goals. Brain Sci. 2023;13(5):717.
32. 32.Hughes DC, Ellefsen S, Baar K. Adaptations to endurance and strength training. Cold Spring Harb Perspect Med. 2018;8(6):a029769.
33. 33.Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal muscular atrophy. In: Seminars in pediatric neurology. Elsevier; 2021. p. 100878.
34. 34.Khan A, Frazer-Green L, Amin R, Wolfe L, Faulkner G, Casey K, et al. Respiratory Management of Patients With Neuromuscular Weakness: An American College of Chest Physicians 250 Efficacy of Rehabilitation Interventions in Children with Spinal Muscular Atrophy to Improve Their Motor Function: Systematic Review