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Learn more: PMC Disclaimer | PMC Copyright Notice Adv Ther . 2026 Mar 2;43(4):1816–1826. doi: 10.1007/s12325-026-03524-4 Search in PMC Search in PubMed View in NLM Catalog Add to search Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy Moria Be’er Moria Be’er 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Moria Be’er 1, ✉, # , Lior Shperling Lior Shperling 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Lior Shperling 1, # , Mika Rochman Mika Rochman 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Mika Rochman 1 , Israel Amirav Israel Amirav 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Israel Amirav 1 , Michal Cahal Michal Cahal 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Michal Cahal 1 , Revital Lavi Revital Lavi 2 Pediatric Neurology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel Find articles by Revital Lavi 2 , Efraim Sadot Efraim Sadot 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel 3 Pediatric Intensive Care Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel Find articles by Efraim Sadot 1, 3 , Yotam Lior Yotam Lior 4 Division of Anesthesia Intensive Care and Pain Medicine, Affiliated to the Gray, Faculty of Medical and Health Sciences, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel Find articles by Yotam Lior 4 , Moran Lavie Moran Lavie 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel Find articles by Moran Lavie 1 Author information Article notes Copyright and License information 1 Pediatric Pulmonology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, 6 Weizman Street, 6423906 Tel Aviv, Israel 2 Pediatric Neurology Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel 3 Pediatric Intensive Care Unit, Affiliated to the Gray, Faculty of Medical and Health Sciences, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel 4 Division of Anesthesia Intensive Care and Pain Medicine, Affiliated to the Gray, Faculty of Medical and Health Sciences, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel ✉ Corresponding author. # Contributed equally. Received 2025 Nov 6; Accepted 2026 Feb 3; Issue date 2026. © The Author(s) 2026 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/ . PMC Copyright notice PMCID: PMC13065587 PMID: 41770482 Abstract Introduction Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with respiratory complications and reduced quality of life (QOL). Although disease-modifying therapies have altered the clinical course of SMA, the role of home-based respiratory physiotherapy as an adjunct to pharmacologic treatment remains underexplored. The aim of this study is to evaluate the impact of a 1-year home-based respiratory physiotherapy program on QOL and pulmonary function in nusinersen-treated patients with SMA types 2 and 3. Methods This mixed prospective interventional and retrospective analytical study assessed the impact of weekly home-based, personally tailored respiratory physiotherapy sessions in addition to standard multidisciplinary care. Group allocation was determined by patient or parental willingness to participate and geographical feasibility for weekly home visits. Pulmonary function tests (PFTs) were performed at baseline and after 12 months. QOL was assessed with the SF-36 questionnaire and the Global Rating of Change (GROC) scale. Results Twenty-nine patients with spinal muscular atrophy (SMA) types 2 and 3 receiving nusinersen were included. The intervention group ( n = 15) and the control group ( n = 14) were comparable at baseline. Objective respiratory parameters remained stable in both groups with no significant differences at the end of the intervention (forced vital capacity % predicted: 72.7 ± 25.1 in the intervention group vs. 69.4 ± 26.5 in the control group, p = 0.7). In contrast, the intervention group demonstrated significantly higher scores in multiple SF-36 domains, including physical functioning and energy/fatigue (41.3 ± 43.7 vs. 2.1 ± 3.7 and 71.7 ± 16.9 vs. 51.4 ± 14.5, respectively; p < 0.05). The median GROC score in the intervention group was 3.0, indicating a clinically meaningful perceived benefit in QOL by exceeding the minimal clinically important difference threshold. Conclusion Home-based respiratory physiotherapy was associated with stable pulmonary indices as well as significant improvements in perceived health status and QOL in patients with SMA treated with nusinersen. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-026-03524-4. Keywords: Spinal muscular atrophy, Home-based respiratory physiotherapy, Pulmonary function tests, Nusinersen Key Summary Points Spinal muscular atrophy (SMA) leads to progressive respiratory decline and reduced quality of life despite advances in disease-modifying therapies such as nusinersen This prospective interventional study evaluated the impact of a 1-year home-based respiratory physiotherapy program in patients with SMA types 2 and 3 Patients receiving weekly personalized home-based respiratory physiotherapy demonstrated significantly higher SF-36 scores and perceived change (GROC) at the end of the intervention compared with controls, exceeding established minimal clinically important difference (MCID) thresholds While objective pulmonary function parameters remained stable in both groups, the integration of home therapy appeared to enhance functional well-being and perceived health status, even without changes in static spirometry indices Home-based physiotherapy represents a feasible, safe, and effective approach that supports the global trend toward home-centered chronic care and improved patient quality of life Open in a new tab Introduction Spinal muscle atrophy (SMA) is rare autosomal recessive genetic disease caused by a defective SMN1 gene, leading to the degeneration of motor neurons and progressive muscle weakness [ 1 ]. Symptoms vary from mild limb weakness in adults to severe weakness and respiratory failure in newborns [ 2 ]. SMA is classified into five types based on age of onset and severity. Types 0 and 1 are the most severe, appearing before or shortly after birth, while types 2, 3, and 4 are less severe and appear later [ 3 ]. SMA treatment is multidisciplinary, involving therapies to slow progression, physiotherapy for supporting motor and respiratory function, and occupational, speech and psychologic therapy as needed. Key components of pulmonary treatment include respiratory physiotherapy and non-invasive ventilation [ 4 ]. Recent advances include new treatments, such as nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and risdiplam (Evrysdi), which improve neurologic function and may alter disease progression. However, there is a paucity of data regarding the impact of these therapies on the respiratory trajectory of patients with SMA [ 5 – 9 ]. The impact of SMA on the respiratory system varies according to the type and severity of muscle function loss. Patients typically experience a gradual decline in respiratory function, marked by weakening muscles that support breathing, chest wall stability, and vertebral column support. This leads to paradoxical breathing, rapid breathing (tachypnea), and ineffective coughing, which can cause respiratory infections and potentially respiratory failure and death [ 10 ]. Forced vital capacity (FVC) is the most informative parameter for assessing lung function in SMA types 2 and 3, with an average annual decline of 0.67%–1.4% [ 10 ]. Other important lung function measures include forced expiratory volume in the first second (FEV1) and vital capacity (VC), which decline annually by 0.73%–1.37% and 1.06%–1.57%, respectively [ 10 , 11 ]. Physiotherapy is a fundamental part of SMA treatment, involving respiratory exercises and muscle strengthening [ 12 ]. While traditionally provided in specialized centers, there is a growing recognition of the benefits of transitioning to home-based treatment [ 13 , 14 ]. Numerous reports support the effectiveness of home-based care in improving function and respiratory health in various diseases, including cystic fibrosis and primary ciliary dyskinesia [ 15 – 18 ]. Evidence suggests that home physiotherapy is safe and well-tolerated in SMA patients as well [ 2 , 19 ]. Combined with new gene therapy treatments, we hypothesized that personalized home respiratory physiotherapy could enhance patients’ quality of life (QOL) and daily function, potentially altering their respiratory trajectory; however, this has not been tested. The aim of our study, therefore, was to assess the feasibility and effectiveness of home-based respiratory physiotherapy programs in SMA patients receiving nusinersen treatment. Methods Study Design and Ethical Considerations This study utilized a mixed prospective interventional and retrospective analytical design. It was conducted at the Pediatric Pulmonology Unit of the Tel Aviv Sourasky Medical Center, Israel, between January 2021 and September 2022. The study protocol was developed by a multidisciplinary team that included pediatric pulmonologists, respiratory physiotherapists, nurses, and pulmonary function technicians. It was performed in accordance with the Declaration of Helsinki and approved by the Institutional Ethics Committee (0873-17 TLV). Written informed consent was obtained from all participants or their legal guardians prior to study participation. Participants We screened all patients with SMA receiving nusinersen treatment at our center during the study period. Inclusion criteria were (1) having genetically confirmed SMA, defined by absence of the SMN1 gene, (2) being able perform standardized pulmonary function tests (PFTs), and (3) patient and/or parental willingness to participate in a weekly home-based physiotherapy program. Exclusion criteria were (1) having SMA type 1, due to inability to perform standardized PFTs, and (2) patient and/or parental unwillingness to participate in the home-based program or lack of access due to residence location. Intervention Protocol During the study period, all participants continued routine multidisciplinary follow-up visits every 3 to 6 months, including physician assessment (e.g., pulmonologist and neurologist), PFTs, and respiratory training (e.g., physiotherapy and adjustment of assisted-breathing devices). In addition to standard care, participants were assigned to either the intervention or control group based upon patient or parental preference and geographical accessibility. The intervention group received a personalized home-based respiratory physiotherapy program, while the control group received standard clinic-based care only. The home-based intervention consisted of weekly 60-min sessions delivered by respiratory physiotherapists with expertise in neuromuscular disorders. Treatment included individualized breathing exercises, airway clearance techniques, and optimization of mechanical insufflation-exsufflation (MIE) when clinically indicated. Physical conditioning exercises, including strengthening, stretching, and mobility, were tailored to each participant’s functional status and home environment. Caregivers or patients received instruction for daily home practice and respiratory management. Outcome Measures Pulmonary Function Tests (Prospective) Pulmonary function tests (PFTs) were performed at baseline (T0) and after 12 months (T12) using a standardized spirometer (KoKo PFT, nSpire Health Inc., Longmont, CO, USA). Measured parameters included spirometric indices consisting of forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), and vital capacity (VC). Measures of respiratory performance, including maximal voluntary ventilation (MVV), peak cough flow (PCF), and maximal expiratory pressure (MEP), were also recorded. Quality of Life Assessment (Retrospective) While the study was initially designed to prospectively monitor respiratory function, the protocol allowed for the integration of patient-reported outcomes in response to patient and family feedback during the intervention period, which indicated improvements in daily well-being. Consequently, a retrospective QOL analysis was conducted at the 12-month follow-up. This was assessed using: The SF-36 Health Survey: A 36-item questionnaire evaluating eight domains of physical and mental health (see Supplementary Material) [ 20 , 21 ]. The Global Rating of Change (GROC) scale: A retrospective change anchor in which patients quantified their perceived change in health status since the beginning of the intervention on a scale from – 7 to + 7 (see Supplementary Material) [ 22 , 23 ]. The minimal clinically important difference (MCID), defined as the smallest change perceived as beneficial by patients, was used to interpret the clinical relevance of the QOL outcomes. For the GROC, a score of ≥ + 2 was predefined as clinically meaningful [ 22 ], while between-group differences in the SF-36 of approximately 3–5 points were reported as clinically meaningful in neuromuscular populations [ 25 ]. Statistical Analysis Means and standard deviations (SD) were used for continuous variables with a normal distribution. We used the median with an interquartile range (IQR) for ordinal and continuous variables with a non-normal distribution. The non-parametric Mann-Whitney test was employed since the parametric assumptions could not be met because of the limited sample sizes in our cohort. We utilized Pearson’s chi-square test for contingency tables or the Fisher exact test, as appropriate, for categorical variables. All statistical analyses were conducted at a significance level (α) of 0.05 (two-sided). The reported p -values were rounded to two decimal places. The data analysis was performed using IBM SPSS Statistics software. Correlation analyses (Spearman and Pearson) were performed to explore associations between changes in pulmonary function parameters and QOL outcomes. Due to the small sample size and rare nature of the disease, this study was designed as a pilot exploratory analysis and was not adequately powered for formal hypothesis testing. Therefore, all statistical results, including unadjusted p -values, should be interpreted cautiously as hypothesis-generating. Results Among the 37 patients with SMA treated with nusinersen during the study period, 8 patients with SMA type 1 were excluded from the analysis. The final study cohort therefore comprised 29 patients with SMA types 2 and 3, with 15 patients assigned to the intervention group and 14 to the control group, based on the predefined inclusion and exclusion criteria (Fig. 1 ). Basic anthropometric data and baseline respiratory parameters were similar between the groups, except for the use of MIE, which was more prevalent in the control group (Table 1 ). The mean interval between assessments was 376.4 ± 54.7 days in the intervention group and 337.9 ± 50.7 days in the control group, with no significant group difference ( p = 0.07). Fig. 1. Open in a new tab Participant flow diagram. This flowchart illustrates the screening, exclusion, and allocation process of the study cohort Table 1. Baseline cohort characteristics Variable Intervention group ( n = 15) Control group ( n = 14) p -value Anthropometric data Age, years, mean (SD) 16.7 (4.1) 14.1 (6.1) 0.29 Sex, male/female ratio 1.14 1.8 0.55 SMA type , n (%) 2 7 (46.7) 11 (78.6) 0.08 3 8 (53.3) 3 (21.4) Respiratory support NIV, n (%) 3 (20) 4 (28.6) 0.68 MIE, n (%) 4 (26.7) 9 (64.3) 0.04 Pulmonary function test FEV1, l, mean (SD) 2 (1.2) 1.3 (0.7) 0.08 FVC, l, mean (SD) 2.3 (1.2) 1.6 (1) 0.13 VC, mean (SD) 2.7 (1.5) 1.9 (1.03) 0.20 MVV, %Ref, mean (SD) 63.7 (22.3) 53.1 (17.4) 0.28 PCF, l/min, mean (SD) 310.7 (120.8) 256.9 (107.9) 0.40 MEP, %Ref, mean (SD) 76.7 (30.2) 77.4 (36.7) 1 Open in a new tab NIV non-invasive ventilation, MIE mechanical insufflation-exsufflation, FEV1 forced expiratory volume in 1 s, FVC forced vital capacity, VC vital capacity, MVV maximal voluntary ventilation, %Ref percent of predicted reference value, PCF peak cough flow, MEP maximal expiratory pressure Intervention effect on QOL Health-Related Quality of Life SF-36 Higher scores, indicating better QOL, were observed in the intervention group than in the controls (Table 2 ) following the 1-year intervention period. The unadjusted p -values for the differences between groups in all eight domains reached a level of significance ( p < 0.05). Table 2. SF36 QOL questionnaire results Variable Intervention group ( n = 15) Control group ( n = 14) p -value Physical functioning 41.3 (43.7) 2.1 (3.7) 0.005 Physical problem limitations 80 (31.6) 35.7 (18.9) < 0.001 Emotional problem limitations 88.9 (27.2) 54.8 (33.6) 0.003 Energy/fatigue 71.7 (16.9) 51.4 (14.5) 0.001 Emotional wellbeing 71.5 (16.6) 54 (15.3) 0.003 Social functioning 78.3 (14.5) 58.9 (18.6) 0.007 Pain 80 (14.8) 57.3 (16.8) 0.002 General health 49.7 (20) 21.1 (8.4) < 0.001 Open in a new tab Values are given as mean (standard deviation) GROC At study closure, the intervention group had a median score of 3 (IQR 2–5), indicating a substantial improvement in their perception of their state of health that exceeded the predefined MCID of + 2. In contrast, the control group had a median score of 1 (IQR 0–2), indicating only a modest improvement ( p < 0.001). Intervention Effect on Pulmonary Function Tests PFTs declined or remained stable in both groups over the course of the study year, with no significant differences in the relative changes between groups for any of the measured parameters (Table 3 ). Specifically, the relative changes in FVC were – 1.48% (SD 24.29) in the intervention group and 5.62% (SD 23.85) in the control group ( p = 0.77); the VC changes were 4.85% (SD 16.62) and 0.73% (SD 22.63), respectively ( p = 0.38); the FEV1 changes were – 4.12% (SD 24.51) and 1.06% (SD 29.23) ( p = 0.77); the MEP changes were – 9.22% (SD 39.44) and – 13.83% (SD 27.40), ( p = 1.00); the PCF changes were 1.61% (SD 18.78) and 4.90% (SD 10.86), ( p = 0.47); and the MVV changes were 4.99% (SD 21.15) and – 0.71% (SD 21.05), ( p = 0.55) (Table 3 ). Correlation analysis (Spearman and Pearson) showed no significant relationship between these relative changes in PFT parameters and any of the QOL scores ( p > 0.05). Table 3. Change in pulmonary functions Variable Intervention group ( n = 15) Control group ( n = 14) p -value Days between tests 376.4 ± 54.7 337.9 ± 50.8 0.07 Rel FEV1, l,% – 4.1 (24.5) 1.1 (29.2) 0.77 Rel FVC, l, % – 1.5 (24.3) 5.6 (23.9) 0.77 Rel VC, % 4.9 (16.6) 0.7 (22.6) 0.38 Rel MVV, %Ref 5 (21.2) – 0.7 (21.1) 0.55 Rel PCF, l/min 1.6 (18.8) 4.9 (10.9) 0.47 Rel MEP, %Ref – 9.2 (39.4) – 13.8 (27.4) 1 Open in a new tab Values are given as mean (standard deviation). Rel relative change in pulmonary function test parameters from baseline Discussion This study is a pilot investigation exploring the potential benefits of home-based respiratory physiotherapy for patients with SMA types 2 and 3. The primary focus was to assess whether home respiratory physiotherapy could positively impact the QOL of these patients as a perceived treatment effect and to provide insights into how adapting their home environment and lifestyle might enhance both physical health and overall well-being. To supplement the self-reported findings with objective outcomes, the study also evaluated the patients’ lung functions. The most compelling findings were the significant differences in QOL scores observed at follow-up among patients who underwent home-based respiratory physiotherapy. These findings validate the growing trend of shifting from solely clinic-based interventions to include home-based care and authenticate the benefits of individualized treatment in a home environment. The study’s utilization of the SF-36 and GROC questionnaires demonstrated significantly higher QOL scores in the intervention group compared to the control group at the end of the intervention period. The SF-36 is recognized as the most frequently validated and utilized tool for assessing QOL in rare genetic conditions, including neuromuscular disorders [ 24 ], and appropriate even for small sample sizes such as ours. The observed benefits of the intervention were reported most prominently in physical functioning and emotional well-being and less reported for alleviating pain. The intervention also led to fewer limitations due to physical and emotional health, better energy levels, and improved overall general health. These results revealed that the most significant impacts of home treatment were in areas related to patient emotion and self-perception of health and motivation. Following the methodology of Kamper et al. [ 22 ], we predefined a GROC score of + 2 or higher as the MCID. The intervention group achieved a median score of 3, exceeding this threshold, whereas the control group did not. The magnitude of the difference in the intervention group also exceeded the MCID established for the SF-36 in neuromuscular conditions [ 25 ]. Enhancements of motivation and health perception are highly relevant since they significantly influence activities of daily living and societal integration. Our observation that the group receiving home-based respiratory physiotherapy demonstrated significantly higher scores across various QOL domains aligns with findings from similar studies that demonstrated the success of home physiotherapy in chronic diseases, such as cystic fibrosis, amyotrophic lateral sclerosis, and primary ciliary dyskinesia, where home treatment has been associated with better physical health, lung function, and overall QOL for both patients and their families [ 15 – 18 , 24 ]. The GROC questionnaire further reinforced these differences, with the intervention group reporting a clinically meaningful perception of well-being at the end of the intervention period (median score of 3, exceeding the MCID), while the control group did not. While these QOL results are indicative of a positive treatment effect, they should be interpreted as reflecting the patients’ and families’ perceived benefit within the context of this unblinded pilot study. Pulmonary function assessments showed no significant group differences in the relative changes throughout the intervention period. This similarity in pulmonary function trajectories across both groups suggests that the home-based respiratory physiotherapy intervention had limited measurable impact on objective lung function parameters, particularly over a 1-year period. It should be borne in mind that the intervention was not expected to improve pulmonary function per se, but rather to contribute to maintaining stability [ 10 , 11 ]. Indeed, no discernible deterioration was observed in either group over the study year, suggesting a potential stabilization of respiratory status—an outcome that aligns with the natural disease course of patients with SMA types 2 and 3 under nusinersen treatment. This is particularly relevant given that most participants in our cohort were adolescents and young adults, with only two youngsters in the intervention group and three in the control group. According to existing literature, lung function in SMA typically declines annually during childhood—by 0.73%–1.37% in FEV1, 0.67%–1.4% in FVC, and 1.06%–1.57% in VC—before reaching a plateau in adulthood [ 10 , 11 ]. Thus, the observed stability appears to reflect this expected trajectory. Notably, despite the absence of objective improvements in these parameters, participants in the intervention group reported significantly lower perceived dyspnea during daily activities. This suggests a potential subjective benefit of the home-based respiratory physiotherapy program beyond what could be captured by spirometry measures and aligns with the significantly higher QOL and GROC scores observed in this group. This highlights the importance of using patient-reported outcomes to evaluate the full impact of the intervention. One notable distinction between the intervention and control groups was the greater use of MIE devices, or cough assist, among participants in the control group. This disparity may suggest that individuals in the intervention group were in better clinical condition, given that reliance on MIE often reflects greater difficulty with effective coughing and secretion clearance—an indicator of more advanced respiratory compromise. This interpretation is consistent with current guidelines for the management of respiratory complications in neuromuscular diseases [ 26 , 27 ]. However, it is also possible that the increased use of cough assist devices in the control group reflects a more intensive respiratory support strategy implemented to improve their clinical status. These findings highlight the inherent complexity in evaluating pulmonary function outcomes in this population of patients with SMA, where both disease severity and variations in supportive care may influence results. The existing literature on the effects of physiotherapy in patients with SMA is limited, with only one article specifically addressing the impact of home training in this population at the time of writing this report [ 19 ]. Until recently, there has been some controversy surrounding physical training in neuromuscular diseases due to concerns about its potential to exacerbate patient exhaustion [ 28 ]. However, the prevailing consensus supports the initiation of a multidisciplinary, self-adjusted treatment regimen as early as possible, and that the regimen should encompass both respiratory and physical training [ 2 , 4 ]. A study involving 16 patients with SMA types 3 explored the effects of a 6-month, home-based combined cycle ergometry and strength training program, comparing it with a usual care group. Although the study did not yield sufficient evidence to draw definitive conclusions about the effects of exercise training on various outcomes, it suggested that participants tolerated strength training well, with potential improvements in strength and motor function [ 29 ]. Notably, that study is the only relevant research available for comparison with our own current investigation. While our study demonstrated significant differences in QOL scores favoring the intervention group, further research is warranted to ascertain the definitive role of home physiotherapy in enhancing physical activities. An ongoing study from 2023 is currently investigating the feasibility and efficacy of a 4-month home-based respiratory muscle training program in patients with SMA who have respiratory muscle weakness. That research specifically aims to assess the potential benefits of the training on lung function, and its results are pending publication [ 30 ]. In addressing our study’s limitations, it should be emphasized that this investigation focused upon a rare disease, resulting in a relatively small sample size. Consequently, this pilot study was not adequately powered for formal hypothesis testing and should be interpreted as a preliminary exploration, intended to generate hypotheses for future research. Another key limitation is the non-randomized assignment of groups. Finally, the unblinded nature of the intervention may have introduced expectation and attention bias; therefore, the QOL results should be interpreted as reflecting the patients’ and families’ perceived benefit within the context of this pilot study. Discussion In conclusion, the findings of our study reveal that a 1-year home-based respiratory physiotherapy intervention for young individuals with SMA type 2 and 3 was associated with higher reported well-being, greater motivation, and reduced difficulty in breathing during daily activities. These results reflected better QOL scores and clinically meaningful perceived benefits, which are particularly relevant for lessening the caregiving burden on parents as care transitions from the hospital/clinic to the home environment. Home-based care also enables parents to gain a more comprehensive understanding of their children’s needs, allowing them to organize their living space more effectively and assume a more integral role in caregiving. There is currently a global trend toward transitioning medical treatments from hospital and clinic settings to home-based care. This study supports the continuation of this trend and provides additional validation of its benefits. We advocate for further comprehensive research with larger cohorts and randomized designs to substantiate these findings and optimize home-based physiotherapy protocols for patients with SMA. Supplementary Information Below is the link to the electronic supplementary material. Supplementary file1 (PDF 401 KB) (400.6KB, pdf) Supplementary file2 (DOCX 16 KB) (15.8KB, docx) Acknowledgements We thank the participants of the study and their families for their cooperation and contribution to this research. We are also grateful to the dedicated physiotherapists whose expertise and perseverance made the home-based intervention possible. Author Contributions Moria Be’er and Lior Shperling contributed equally to this work. Moria Be’er, Lior Shperling, Mika Rochman, Israel Amirav, Michal Cahal, Revital Lavi, Efraim Sadot, Yotam Lior, and Moran Lavie contributed to the study concept and design. Material preparation, data collection, and analysis were performed by Moria Be’er, Lior Shperling, and Yotam Lior. The first draft of the manuscript was written by Moria Be’er and Lior Shperling, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Funding No funding or sponsorship was received for this study or publication of this article. Data Availability The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request. Declarations Conflict of Interest Prof. Israel Amirav is an Editorial Board member of Advances in Therapy. Prof. Amirav was not involved in the selection of peer reviewers for the manuscript nor any of the subsequent editorial decisions. All other authors (Moria Be’er, Lior Shperling, Mika Rochman, Michal Cahal, Revital Lavi, Efraim Sadot, Yotam Lior, and Moran Lavie) have nothing to disclose. Ethical Approval This study was performed in accordance with the Declaration of Helsinki. Ethical approval was obtained from the Institutional Review Board (Helsinki Committee) of the Tel Aviv Sourasky Medical Center (approval no.0873–17-TLV]). Informed consent was obtained from all individual participants (or their legal guardians) included in the study. Footnotes Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Authors Moria Be’er and Lior Shperling contributed equally to this work. References 1. Münster T. Spinal muscular atrophy. Anasthesiol Intensivmed. 2021;62(9):S221–35. [ Google Scholar ] 2. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157–67. 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[ DOI ] [ PMC free article ] [ PubMed ] [ Google Scholar ] Associated Data This section collects any data citations, data availability statements, or supplementary materials included in this article. Supplementary Materials Supplementary file1 (PDF 401 KB) (400.6KB, pdf) Supplementary file2 (DOCX 16 KB) (15.8KB, docx) Data Availability Statement The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request. 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