Spinal muscular atrophy, once a near-certain death sentence for infants, has become a treatable disease over the past decade. The success of new therapies has created unexpected challenges as patients outlive the systems originally designed for their care.
The disease that no longer fits its own history
SMA stems from a defect in the SMN1 gene, causing progressive motor neuron loss. For generations, the condition followed a predictable, bleak path. Infants with the most severe form rarely lived past age two. Those with milder cases experienced gradual weakness, often relying on wheelchairs by adolescence.
Newborn screening and early intervention have changed that trajectory. Children diagnosed at birth and treated before symptoms appear now reach motor milestones—sitting, standing, walking—that were previously unimaginable. The long-term effects of these therapies, however, remain uncertain. Many patients have tried multiple treatments, sometimes in combination, leaving clinicians without clear guidance for future care.
Divya Jayaraman, a neurologist at Columbia University Irving Medical Center, described the situation as both promising and complex. “We’re creating a new treated natural history,” she said. “Patients have often been exposed to several therapies in sequence.”
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Families frequently ask which treatment is best. Jayaraman, who works at the Muscular Dystrophy Association Care Center, explained that the necessary data isn’t yet available. “When they ask how one therapy compares to another, I have to tell them the information hasn’t been analyzed or doesn’t exist,” she said.
The pediatric-to-adult care gap
The most pressing issue arises when these patients reach adulthood. Pediatric neuromuscular programs offer coordinated care with teams of specialists. Adult medicine, however, tends to be more fragmented, expecting patients to manage their own treatment.
“Patients are accustomed to support and guidance,” Jayaraman noted. “Adult care provides less of that structure.”
The shift has left many young adults in an uncertain position. Some manage well—attending college, working, living independently—but their medical needs persist. While adult neurologists may understand SMA, Jayaraman emphasized the importance of surrounding support. “The question isn’t just whether an adult neuromuscular doctor can care for these patients,” she said. “Do they have access to pulmonologists, physical therapists, and other specialists familiar with the disease?”
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The transition becomes more difficult for adults with milder SMA who were never diagnosed as children. Some went decades without treatment, unaware that newer options now exist. Jayaraman suggested that newer, less invasive treatments might encourage them to seek care again.
Where awareness remains limited
Pediatricians and child neurologists generally recognize SMA and its treatments. Jayaraman identified two groups still lacking key information: obstetricians and adults with milder forms of the condition.
For obstetricians, timing is critical. If SMA is detected prenatally, Jayaraman recommends considering early delivery at 36 or 37 weeks to allow immediate postnatal treatment. “Obstetricians know about the disease but may not realize how many treatments exist or how time-sensitive they are,” she said.
For adults, the challenge is reconnection. Many with milder SMA were never diagnosed as children or were told nothing could be done. Some stopped seeing doctors entirely. Jayaraman suggested that newer, less burdensome treatments might bring them back.
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“There are likely many who haven’t engaged with the medical system,” she said. “Newer treatments could bring them back.”
The medical field is still determining how to best care for these patients. Some adult neurologists have established SMA-specific clinics, though this approach isn’t widespread. “No single person can solve this,” Jayaraman said. “It requires institutional support and cooperation from insurers.”
The future remains unclear. The first generation of treated SMA patients is entering adulthood, but their long-term outlook at 30, 40, or beyond is unknown. The condition that was once fatal is now chronic, yet the systems meant to support it are still adapting.