Early Diagnosis, Multidisciplinary Care Redefine the SMA Treatment Journey

The treatment landscape for patients living with spinal muscular atrophy (SMA) has changed substantially over the past decade with the emergence of disease-modifying therapies (DMTs) and the inclusion of SMA being added to newborn screening panels.^1,2 As diagnosis and treatment increasingly occur before SMA symptoms appear, clinicians are seeing more patients reach motor milestones that were once considered unlikely, and the focus of care has broadened well beyond survival alone.³

This shift in the diagnosis and management of SMA among pediatric and adult patients has not simplified care, however, according to clinicians. Although patients are living longer and achieving more, experts in the field are now managing a wider range of needs for their patients, spanning mobility, respiratory health, nutrition, orthopedic health, and fatigue, as part of a multidisciplinary team that must continually adjust as a patient's status changes.⁴

To explore how this evolving landscape of care is shaping clinical practice, NeurologyLive recently spoke with Nestor Galvez-Jimenez, MD, a neurologist and director of the autonomic neurology program at Baptist Health Miami Neuroscience Institute, part of Baptist Health South Florida. In the conversation, he discussed how DMTs and newborn screening have changed the SMA care journey, and why DMT and multidisciplinary supportive care must work together rather than compete. He also detailed what unmet needs he is most focused on for patients who begin treatment later or have lived with SMA for many years.

NeurologyLive: From your perspective, how has your understanding of SMA's impact on patients and families evolved over your career?

Nestor Galvez-Jimenez, MD: Earlier in my career, SMA was largely viewed through the lens of progressive weakness and the complications that came with it. Over time, and especially with the emergence of disease-modifying therapies, our understanding has become much broader. SMA affects not just mobility, but also respiratory health, nutrition, independence, social development, and the day-to-day lives of entire families. What has become increasingly clear is that treating SMA means caring for the whole person and supporting the family over the long term. Today, there is much more hope, but there are also new questions about how we help patients live longer, remain as independent as possible, and achieve the best quality of life.

What does a typical care journey look like for a patient with SMA from your vantage point, and where does your role fit into the broader care team?

The care journey today often begins very early, sometimes before a child develops symptoms because SMA can now be detected through newborn screening. Once a diagnosis is confirmed, there is an urgency to evaluate the patient and determine the most appropriate disease-modifying treatment. From there, care is truly multidisciplinary. Depending on the patient's needs, the team may include neurology, pulmonology, rehabilitation medicine, physical and occupational therapy, orthopedics, nutrition, respiratory therapy, and other specialties. My role is one part of that larger team. We are constantly communicating with one another because a change in strength or mobility can affect breathing, swallowing, positioning, bone health, or the patient's ability to participate in everyday activities. The goal is not simply to treat the underlying disease, but to anticipate complications, preserve function, and help each patient reach his or her fullest potential.

What has been the most meaningful shift you've seen in SMA treatment or management since the approval of disease-modifying therapies?

The biggest shift has been moving from primarily managing the consequences of SMA to actually changing the course of the disease. Before disease-modifying therapies, clinicians often had to prepare families for the progressive loss of motor function. Now, we are seeing children achieve milestones that historically might not have been expected, particularly when treatment begins before symptoms appear or very early in the disease course. That has also changed the importance of early diagnosis. Newborn screening and rapid access to treatment can make an enormous difference because motor neurons that have already been lost cannot simply be restored. In SMA, time truly matters. The earlier we can intervene, the greater the opportunity to preserve function and alter the patient's trajectory.

What's one misconception about SMA care within your specialty or the field broadly that you'd like clinicians to understand better?

One misconception is that once a patient receives a disease-modifying therapy, the rest of SMA care becomes less important. These therapies have transformed the disease, but they do not eliminate the need for comprehensive, lifelong care. Patients may still experience weakness or challenges involving mobility, breathing, swallowing, nutrition, orthopedic health or fatigue. In fact, because patients are living longer and achieving more, we are encountering clinical needs that were less commonly seen in the past. Disease-modifying therapy and multidisciplinary supportive care should not be viewed as competing approaches. They work together.

Looking ahead, what unmet need or open question in SMA care are you most focused on right now?

One of the most important questions is how we continue to improve outcomes for patients who begin treatment after symptoms have already developed, as well as adolescents and adults who have lived with SMA for many years. We have made extraordinary progress, but treatment response is not the same for every patient. We also need better ways to predict and measure an individual's response to therapy and understand the potential role of combination or complementary treatments. As patients live longer, we are learning more about the long-term effects of SMA and the evolving needs of this population. The next chapter of SMA care is not simply about survival. It is about maximizing strength, function, independence, and quality of life throughout a patient's lifetime.

Transcript edited for clarity. For more perspectives on the multidisciplinary care approach in SMA, click here to read our previous Q&A in this series.

REFERENCES
1. Mercuri E, Finkel RS, Muntoni F. Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions. Nat Rev Neurol. Published online June 17, 2026. doi:10.1038/s41582-026-01224-9
2. Krosschell KJ, Dunaway Young S, Maczek E, et al. Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA. J Neuromuscul Dis. Published online April 7, 2026. doi:10.1177/22143602261433638
3. Belančić A, Eustaquio PC, Gkrinia EMM, Rački V, Pilipović K, Vitezić D. Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2. Biomedicines. 2025;13(8):1939. Published 2025 Aug 8. doi:10.3390/biomedicines13081939
4. Gotti E, Bruscino G, Carta C, et al. Management of spinal muscular atrophy: nursing clinical commentary and best practices update. J Pediatr Nurs. 2026;89:A7-A13. doi:10.1016/j.pedn.2026.04.017