Emerging Literature on Multidisciplinary Care in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder caused by biallelic variants in the survival motor neuron 1 (SMN1) gene, leading to degeneration of motor neurons in the spinal cord and progressive proximal muscle weakness. The approval of 3 SMN-enhancing therapies, including nusinersen (Spinraza; Biogen), onasemnogene abeparvovec (Zolgensma; Novartis), and risdiplam (Evrysdi; Roche), has substantially altered the natural history of the disease, but it has not reduced the need for coordinated care across disciplines.

If anything, longer survival and improved motor function have expanded the range of clinicians involved. In recognition of SMA Awareness Month, held annually throughout August, NeurologyLive^® reviewed recent literature on multidisciplinary care in SMA, focusing on how care teams are structured, what each discipline contributes, and where the evidence base still falls short.

Newborn Screening and Coordinated Care Pathways

Published in Genetics in Medicine in 2026, an Australian and New Zealand working group set out an evidence-based multidisciplinary model of care for newborn screening in SMA.¹ The effort was led by Didu S. Kariyawasam, MBBS, PhD, a pediatric neurologist and postdoctoral researcher at UNSW Sydney who practices clinically at Sydney Children’s Hospital in Randwick, Australia. Thirty-five experts prepared systematic reviews and formulated recommendations through a modified Delphi process.

The group produced 25 best practice recommendations spanning screening, diagnostic, and clinical domains, together with guidance on information provision and genetic counseling for families. Recommendations emphasized expediting time to diagnosis and treatment through collaboration and coordination between health care services, and ensuring equitable, timely access to specialist care. The work positioned genetic counseling not as an adjunct to diagnosis but as a core component of the care pathway from the point of a positive screen forward.

Rehabilitation Management and Care Team Roles

Rehabilitation cuts across nearly every discipline involved in SMA care, and a 2025 review in Orphanet Journal of Rare Diseases mapped both the disciplines and the work they share.² Wei Song and corresponding author Xiaohua Ke, both of the Department of Rehabilitation Medicine at Shanghai Fourth People’s Hospital, School of Medicine, Tongji University in China, organized rehabilitation into 4 domains: motor function management, respiratory function support, swallowing function management, and posture alignment with assistive device use.

The authors described a multidisciplinary cooperation model integrating nutrition, psychology, rehabilitation medicine, pediatrics, orthopedics, and neurology, with regular team meetings to share assessments and jointly adjust individualized plans. Neurologists were positioned centrally, confirming diagnosis, monitoring progression, and leading gene therapy decisions, while rehabilitation physicians coordinate therapies, physical therapists address strength, range of motion, posture control, and respiratory training, nutritionists manage intake and weight to prevent both malnutrition and obesity, and psychologists support patients and caregivers. Notably, the review emphasized that rehabilitation plans must be adjusted both before and after gene therapy: beforehand to optimize the therapeutic window, and afterward to capture functional gains as they emerge. The authors also flagged persistent barriers, including a shortage of experienced rehabilitation teams in many regions, difficulties with long-term adherence, and a scarcity of large-scale randomized controlled trials evaluating long-term rehabilitation outcomes.

Disease-Modifying Therapy and Swallowing Outcomes

Bulbar function has drawn far less attention than motor function in the treatment era. To assess how swallowing and feeding are actually being evaluated, senior author Katlyn E. McGrattan, PhD, CCC-SLP, assistant professor in the Department of Speech-Language-Hearing Science at the University of Minnesota and a speech pathologist at Masonic Children’s Hospital, and colleagues conducted a systematic review published in Orphanet Journal of Rare Diseases in 2026.³ The team searched Embase, MEDLINE, and Cochrane Central from May 2021 to February 2024 for studies reporting swallowing and feeding outcomes with nusinersen, onasemnogene abeparvovec, and risdiplam.

Among the 72 studies identified, 71 of 72 (99%) reported functional swallow outcomes such as oral intake status or patient-reported measures, but only 14 studies (19%) used clinician-administered assessments, and imaging results appeared in just 5%. Only 68% reported both pre- and post-treatment assessments. Patients who received disease-modifying therapy (DMT) before symptom onset had good functional outcomes, with 84% to 100% achieving full oral nutrition, while treatment after symptom onset produced more variable results influenced by baseline impairment and the assessment method used. The authors noted that bulbar symptoms may persist even when motor function improves, a finding that argues for structured speech-language pathology involvement rather than reliance on motor milestones as a proxy for swallowing safety. Several authors were affiliated with Roche, as a disclosure.

Integrated Care and Emerging Disease Phenotypes

Romania offers a view of what multidisciplinary care looks like when it is fully resourced. Three years of outcomes from an integrated SMA program there were reported in Life in 2025.⁴ The study was conducted by Madalina Cristina Leanca and colleagues, with senior author Gelu Onose, MD, PhD, MSc, professor of physical and rehabilitation medicine at the “Carol Davila” University of Medicine and Pharmacy in Bucharest and senior physician at the Teaching Emergency Hospital “Bagdasar-Arseni.”

This retrospective observational study followed 104 children and adolescents between July 2022 and June 2025 at the National University Center for Children Neurorehabilitation. The treating center paired a multidisciplinary team of 12 medical specialties, alongside nurses, physiotherapists, psychologists, speech therapists, and social workers, with Romania’s newborn screening pilot program, run in partnership with 28 maternity hospitals in Bucharest and neighboring counties. Roughly 60,000 newborns were screened over the 3 years, close to 40% of the country’s newborn population, identifying 13 children presymptomatically.

Motor function was tracked with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale for type I and the Hammersmith Functional Motor Scale Expanded (HFMSE) for types II and III. Combined median scores rose steadily across follow-up, from 29 at baseline to 36 at 6 months, 39 at 12 months, 43 at 18 months, and 44.5 at 24 months, with the Friedman test indicating statistical significance (P <.01) at every interval. In addition, 93 of the 104 patients (89.4%) maintained oral feeding without requiring permanent enteral intervention, while 35.6% required noninvasive ventilation. The authors argued that the combination of presymptomatic identification, etiopathogenic therapy, and sustained multidisciplinary rehabilitation is producing clinical phenotypes that do not map cleanly onto the historical SMA type classifications.

Adult Transition and Care Coordination Gaps

For adults, the picture looks considerably different. A 2025 mixed-methods study published in the Journal of Neuromuscular Diseases examined what happens to patients with SMA once they leave pediatric services.⁵ Co-first authors Joseph Munn and Emily Zaltz, of the Division of Respiratory Medicine in the Department of Pediatrics at the Hospital for Sick Children, University of Toronto, and senior author Reshma Amin, MD, FRCPC, professor of pediatrics at the University of Toronto and director of the Long-term Ventilation program at SickKids, used a convergent parallel design combining the Family Experiences with Care Coordination (FECC) survey with qualitative interviews in a purposive sample of 20 participants recruited from a Toronto neuromuscular clinic. The mean participant age was 40.5 years, and most had transitioned to adult care 20 or more years earlier.

The survey findings were stark: of 20 participants, only 7 had a care coordinator, just 1 had a written transition plan, and none had a shared care plan or an emergency plan. Three themes emerged from the interviews: a disjointed transition period, physically inaccessible adult care settings paired with a constant need for self-advocacy, and a clear call for multidisciplinary care teams and better preparation before transfer. The authors framed this as a problem likely to intensify: as DMTs extend survival and function, a growing population of patients diagnosed and managed in pediatric neuromuscular programs will age into adult systems that were not built around them. The study’s own authorship reflects the multidisciplinary character of the question, spanning respiratory medicine, neurology, and nursing. The work received investigator-initiated funding from Biogen, Roche, and Muscular Dystrophy Canada, as a disclosure.

Clinical Implications and Future Directions

Taken together, this literature points in a consistent direction. Across newborn screening pathways, rehabilitation frameworks, bulbar assessment, and integrated care programs, the recurring recommendation is not a specific intervention but a structure: coordinated, individualized care delivered by a team whose members adjust their contributions as the disease and its treatment evolve. That conclusion is reinforced by the most recent best practice update from an American and European working group led by Mary K. Schroth, MD, chief medical officer of Cure SMA, which identified access to care coordination and interdisciplinary care as essential to treatment success.⁶

First, the evidence base is heavily weighted toward newborns and young children, reflecting where screening programs and early-intervention research have concentrated; studies addressing adolescents and adults remain comparatively sparse, even as the treated population ages. Second, rigorous trial evidence for rehabilitation itself is limited, with much of the current guidance drawn from reviews, consensus processes, and small cohorts rather than randomized data. Both represent clear priorities for future research, and both matter increasingly as the treated SMA population grows older and larger than the literature currently describes.

In honor of SMA Awareness Month this August, NeurologyLive is inviting practicing neurologists and advanced practice providers to share their perspective on SMA. This quick, 5-question survey takes just a few minutes and will help shape our coverage we provide going forward.

REFERENCES
1. Kariyawasam DS, Meagher CE, Kay A, et al. Evidence-based multidisciplinary model of care for newborn screening in spinal muscular atrophy. Genet Med. 2026;28(5):102560. doi:10.1016/j.gim.2026.102560
2. Song W, Ke X. Rehabilitation management for patients with spinal muscular atrophy: a review. Orphanet J Rare Dis. 2025;20(1):352. Published 2025 Jul 10. doi:10.1186/s13023-025-03888-w
3. Martí Y, Gorni K, Kumari S, Mahajan A, Baranello G, De Waele L, McGrattan KE. Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes. Orphanet J Rare Dis. 2026;21(1):7. Published 2026 Jan 8. doi:10.1186/s13023-025-04118-z
4. Leanca MC, Mirea A, Nicolae G, Capitanescu A, Munteanu C, Onose G. The integrated approach in patients with spinal muscular atrophy in the era of early diagnosis, etiopathogenic therapies and multidisciplinary standards of care and rehabilitation interventions leads to new phenotypes. Life (Basel). 2025;15(11):1731. Published 2025 Nov 10. doi:10.3390/life15111731
5. Munn J, Zaltz E, Izenberg A, et al. Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: a mixed methods study. J Neuromuscul Dis. 2026;13(3):282-292. doi:10.1177/22143602251377241
6. 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