Curie Brief
Turn on cookies to sign in
Signing in saves your progress to your Curie account. We can only do that with cookies on — turn them on to continue.
News
Disease-modifying therapies have transformed spinal muscular atrophy (SMA), but experts warn the job isn't done. Bulbar dysfunction — affecting speech and swallowing — remains a poorly characterized and undertreated burden, especially in adults. Clinicians are calling for more research, standardized diagnostics, and a truly multidisciplinary approach to close the remaining gaps in SMA care.
Disease-modifying therapies like nusinersen, onasemnogene abeparvovec, and risdiplam have dramatically reshaped spinal muscular atrophy (SMA), with newborn screening now available in all 50 U.S. states enabling presymptomatic treatment. Patients are living longer, reaching motor milestones once considered impossible — but experts caution that SMA is far from "cured." The nerves governing speech and swallowing remain particularly vulnerable and systematically undercharacterized, even as patient surveys consistently flag bulbar symptoms as a major burden in adulthood.
Clinicians across leading centers emphasize that disease-modifying therapy and multidisciplinary supportive care must work in tandem, not in competition. Effective SMA care requires neurology, pulmonology, rehabilitation medicine, gastroenterology, orthopedics, speech-language pathology, nutrition, and genetic counseling — all communicating in real time. A persistent structural challenge is the pediatric-to-adult care transition, with adult systems still catching up to the infrastructure needed to support this growing population.
Key Takeaways:
Why it matters: As SMA patients live longer and healthier lives, the field must evolve beyond survival metrics. Addressing bulbar dysfunction, improving care coordination, and building robust adult care systems are the next frontiers — and the lessons learned in SMA could serve as a model for other rare genetic and motor neuron diseases.
