Physical therapy for patients with spinal muscular atrophy

Czech version

Authors: M. Sládečková ^1,2; T. Příkazká ³
Authors‘ workplace: Neurologická klinika FN Brno ¹; Rehabilitační klinika LF MU a FN Brno ²; Klinika rehabilitace a tělovýchovného lékařství 2. LF UK a FNMH – Motol, Praha ³
Published in: Cesk Slov Neurol N 2026; 89(S1): 37-41
doi: https://doi.org/10.48095/cccsnn2026S37

Overview

Physiotherapy is an important component of multidisciplinary care for adult patients with spinal muscular atrophy (SMA). In the era of current treatment, rehabilitation goals are shifting from merely maintaining functional status towards supporting motor abilities, preventing secondary complications, optimizing respiratory function, managing fatigue, and promoting long-term physical activity. Regular standardized assessment appropriate to the patient’s age and functional level is essential. In patients with more severe forms of SMA, physiotherapy focuses mainly on the prevention of contractures, positioning, individualized seating, appropriate wheelchair provision, support of upper limb function, assistive devices, and prevention of pressure injuries. In patients with SMA types 3 and 4, functional training, standing and gait training, balance training, and aerobic and strength exercise are important, with careful consideration of fatigue, pain, and the risk of overuse. Respiratory physiotherapy is an integral part of long-term care and includes monitoring of inspiratory and expiratory muscle strength, peak cough flow, and, when indicated, airway clearance techniques, assisted coughing, and non-invasive ventilatory support. The available evidence on rehabilitation in adult patients with SMA remains limited, particularly in patients treated with modern disease-modifying therapy. Clinical recommendations should therefore be based on a combination of standards of care, available studies, knowledge of the natural history of the disease, and individualized functional assessment.

Keywords:

spinal muscular atrophy – Physical activity – Physiotherapy – rehabilitation – functional assessment – respiratory physiotherapy – adult patients

Sources

1. Mercuri E, Finkel RS, Muntoni F et al. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018; 28 (2): 103–115. doi: 10.1016/j.nmd.2017.11.005.

2. Shin HI. Rehabilitation strategies for patients with spinal muscular atrophy in the era of disease-modifying therapy. Ann Rehabil Med 2024; 48 (4): 229–238. doi: 10.5535/arm.240046.

3. Finkel RS, Mercuri E, Meyer OH et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018; 28 (3): 197–207. doi: 10.1016/j.nmd.2017.11.004.

4. Rodriguez-Torres RS, McDermott MP, Montes J et al. Measuring fatigue and fatigability in spinal muscular atrophy: challenges and opportunities. J Clin Med 2023; 12 (10): 3458. doi: 10.3390/jcm12103458.

5. Sansone VA, Walter MC, Attarian S et al. Measuring outcomes in adults with spinal muscular atrophy –⁠ challenges and future directions –⁠ meeting report. J Neuromuscul Dis 2020; 7 (4): 523–534. doi: 10.3233/JND-200534.

6. Pierzchlewicz K, Kępa I, Podogrodzki J et al. Spinal muscular atrophy: the use of functional motor scales in the era of disease-modifying treatment. Child Neurol Open 2021; 8 : 2329048X211008725. doi: 10.1177/2329048X211008725.

7. Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, et al. Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy. Eur J Neurol. 2022; 29 (12): 3666–3675. doi: 10.1111/ene.15542

8. Hodgkinson VL, Oskoui M, Lounsberry J et al. A national spinal muscular atrophy registry for real-world evidence. Can J Neurol Sci 2020; 47 (6): 810–815. doi: 10.1017/cjn.2020.111.

9. Balaji L, Farrar MA, Yiu EM et al. A state-of-the-art review of registries in spinal muscular atrophy: a valuable resource for clinical research. Rare Dis Orphan Drugs J 2025; 4 (3): 312–329. doi: 10.1177/22143602241313113.

10. Glanzman 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.2009.11.014.

11. Duong T, Muni Lofra R, Pasternak A et al. Longitudinal assessment of the Adapted Test for Neuromuscular Disease (ATEND) in individuals living with spinal muscular atrophy (SMA). Neuromuscul Disord 2024; 43 : 104441.445. doi: 10.1016/j.nmd.2024.07.454.

12. Slayter J, Casey L, O’Connell C. Patient reported outcome measures in adult spinal muscular atrophy: a scoping review and graphical visualization of the evidence. J Neuromuscul Dis 2023; 10 (2): 239–250. doi: 10.3233/JND-221595.

13. Zizzi CE, Luebbe E, Mongiovi P et al. The Spinal Muscular Atrophy Health Index: a novel outcome for measuring how a patient feels and functions. Muscle Nerve 2021; 63 (6): 837–844. doi: 10.1002/mus.27223.

14. Steffensen BF, Hyde SA, Lyager S et al. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int 2001; 6 (3): 119–134. doi: 10.1002/pri.221.

15. Livingstone R, Paleg G. Enhancing function, fun and participation with assistive devices, adaptive positioning, and augmented mobility for young children with infantile-onset spinal muscular atrophy: a scoping review and illustrative case report. Disabilities 2021; 1 (1): 1–22. doi: 10.3390/disabilities1010001.

16. Janssen MMHP, Horstik J, Klap P et al. Feasibility and effectiveness of a novel dynamic arm support in persons with spinal muscular atrophy and Duchenne muscular dystrophy. J Neuroeng Rehabil 2021; 18 (1): 84. doi: 10.1186/s12984-021-00868-6.

17. Essers JMN, Murgia A, Peters A et al. Daily life benefits and usage characteristics of dynamic arm supports in subjects with neuromuscular disorders. Sensors (Basel) 2020; 20 (17): 4864. doi: 10.3390/s20174864.

18. Bartels B, Montes J, van der Pol WL et al. Physical exercise training for type 3 spinal muscular atrophy. Cochrane Database Syst Rev 2019; 2019 (3): CD012120. doi: 10.1002/14651858.CD012120.pub2.

19. Montes 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-150101.

20. Madsen 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.24527.

21. Veldhoen ES, Wijngaarde CA, Hulzebos EHJ et al. Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study. Orphanet J Rare Dis 2022; 17 (1): 70. doi: 10.1186/s13023-022-02227-7.

22. Wijngaarde CA, Veldhoen ES, van Eijk RPA et al. Natural history of lung function in spinal muscular atrophy. Orphanet J Rare Dis 2020; 15 (1): 88. doi: 10.1186/s13023-020-01367-y.

23. Crescimanno G, Vitacca M, Sansone VA et al. Multiple respiratory assessment and thresholds for noninvasive ventilation in adult patients with spinal muscular atrophy. Sci Rep 2025; 15 : 5771. doi: 10.1038/s41598-025-91276-6.

24. Brennan M, McDonnell MJ, Harrison MJ et al. The use of cough peak flow in the assessment of respiratory function in clinical practice: a narrative literature review. Respir Med 2022; 193 : 106740. doi: 10.1016/j.rmed.2022.106740.

25. Chatwin M, Toussaint M, Gonçalves MR et al. Airway clearance techniques in neuromuscular disorders: a state of the art review. Respir Med 2018; 136 : 98–110. doi: 10.1016/j.rmed.2018.01.012.

26. Kant-Smits K, Bartels B, van Eijk RPA et al. The RESISTANT study (Respiratory Muscle Training in Patients with Spinal Muscular Atrophy): results of a randomized controlled trial. Physiotherapy 2025; 129 : 101842. doi: 10.1016/j.physio.2025.101842.

27. Vianello A, Guarnieri G, Bertagna De Marchi L et al. The effect of long-term non-invasive ventilation on tracheostomy-free survival and hospitalizations in types 2 and 3 spinal muscular atrophy patients. J Clin Med 2025; 14 (22): 8171. doi: 10.3390/jcm14228171.

28. Schroth MK, Deans J, Bharucha Goebel DX et al. Spinal muscular atrophy update in best practices: recommendations for treatment considerations. Neurol Clin Pract 2025; 15 (1): e200374. doi: 10.1212/CPJ.0000000000200374.

29. Doshi VH, Melwani KH, Solanki V et al. New horizons in physiotherapy for spinal muscular atrophy (SMA) type 1 in the era of disease-modifying treatments: a case report. J Clin Diagn Res 2026; 20 (4): YD04–YD06. doi: 10.7860/JCDR/2026/81639.22695.

30. Kilic SM, Mutluay F, Cakar A et al. The effect of aerobic exercise training on patients with type III spinal muscular atrophy. J Clin Med 2025; 14 (17): 6087. doi: 10.3390/jcm14176087.

31. Ahmed F, Islam A, Akter S et al. Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting. J Pediatr Rehabil Med 2024; 17 (2): 247–252. doi: 10.3233/PRM-230008.

32. Lewelt 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.24568.

33. Mortenson P, Cushen N, Zwicker JG et al. Rehabilitation approaches used for children with spinal muscular atrophy: A scoping review based on the F-words framework. Child Care Health Dev 2025. doi: 10.1177/18758894261443738.

34. Aslan GK, Gurses HN, Issever H et al. Effects of respiratory muscle training on pulmonary functions in patients with slowly progressive neuromuscular disease: a randomized controlled trial. Clin Rehabil 2014; 28 (6): 573–581. doi: 10.1177/0269215513512215.

35. Crescimanno G, Lupica A, Tomasello V et al. Multiple respiratory assessment and thresholds for noninvasive ventilation in adult patients with spinal muscular atrophy. Sci Rep 2025; 15 (1): 6478. doi: 10.1038/s41598-025-90305-9.

36. Kruse T, Leflerová D, Cap A et al. Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach. Orphanet J Rare Dis 2024; 19 (1): 382. doi: 10.1186/s13023-024-03375-7.

37. Fauroux B, Griffon L, Amaddeo A et al. Respiratory Management of Children With Spinal Muscular Atrophy (SMA). Arch Pediatr 2020; 27 (7 Suppl): 7S29–7S34. doi: 10.1016/S0929-693X (20) 30143-4.

38. Fauroux B, Guillemot N, Aubertin G et al. Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases. Chest 2008; 133 (1): 161–168. doi: 10.1378/chest.07-1780.

39. Choi YH, Kim MS, Kim CH et al. Looking into the life of technology-dependent children and their caregivers in Korea: lifting the burden of too many responsibilities. BMC Pediatr 2020; 20 : 486. doi: 10.1186/s12887-020-02358-4.

40. Human A, Morrow BM. Inspiratory muscle training in children and adolescents living with neuromuscular diseases: a pre-experimental study. South Afr J Physiother 2021; 77 (1): a1577. doi: 10.4102/sajp.v77i1.1577.

41. Flatters I et al. The relationship between a child’s postural stability and manual dexterity. Exp Brain Res 2014; 232 : 2907–2917. doi: 10.1007/s00221-014-3985-7.

42. Peeters L, de Groot I, Geurts A. Trunk involvement in performing upper extremity activities while seated in neurological patients with a flaccid trunk –⁠ a review. Gait Posture 2018; 62 : 46–55. doi: 10.1016/j.gaitpost.2018.03.027.

43. Human A, Corten L, Lozano-Ray E, Morrow BM. Inspiratory muscle training in children with neuromuscular disorders. South Afr J Physiother 2024; 80 (1): 1–11. doi: 10.4102/sajp.v80i1.1577.

44. Ata G, Tunalı Van Den Berg AN, Dansuk E et al. Inspiratory muscle training and trunk control exercises on respiratory strength and motor function in spinal muscular atrophy: randomized controlled trial. Sci Rep 2026; 16 : 2700. doi: 10.1038/s41598-026-02700-7.

45. Song W, Ke X. Rehabilitation management for patients with spinal muscular atrophy: a review. Orphanet J Rare Dis 2025; 20 (1): 352. doi: 10.1186/s13023-025-03888-w.

46. Calabrò RS, Morone G. Advancing rehabilitation medicine with the metaverse: opportunities and challenges. Brain Sci 2025; 15 (3): 321. doi: 10.3390/brainsci15030321.