Profound deficits in mechanisms essential for swallowing are common among untreated infants with spinal muscular atrophy (SMA) type 1, according to a natural history study. While nearly all the babies could initiate the swallowing process, problems in the transfer of food or liquids from the throat into the esophagus…

While effective treatment is lengthening life and improving its quality, children with spinal muscular atrophy (SMA) type 1 often have abnormal spinal curvatures like scoliosis that require long-term care, a study highlights. “Novel therapies have made this [SMA] a treatable condition, resulting in increased life expectancy,” the researchers, all…

Nearly 4 of every 5 infants with spinal muscular atrophy (SMA) type 1 born in Italy during the era of disease-modifying therapies (DMTs) are still alive, illustrating that such treatment has “radically changed the course of … type I SMA,” with “much higher survival,” according to a nationwide…

The muscle fibers of children with spinal muscular atrophy (SMA) type 1 are substantially different from those of age-matched peers early in life, a study found. Muscle fibers are the basic units of muscle tissue that contract to allow movement. The differences were evident in levels and types of components…

An infant was diagnosed with Down syndrome coexisting with spinal muscular atrophy (SMA) type 1, a case study reported. “The coexistence of [Down syndrome] and SMA poses unique challenges due to overlapping clinical features,” the researchers wrote in the case study, “A Rare Genetic Intersection: Down…

Following treatment with gene therapy Zolgensma (onasemnogene abeparvovec-xioi), adding a second therapy, such as Spinraza (nusinersen) or Evrysdi (risdiplam), did not prevent widespread muscle disease progression in infants at risk of spinal muscular atrophy (SMA) type 1, a real-world study found. Although children treated with a…

More than 90% of children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are still alive and achieving motor milestones that would be unattainable without treatment, according to final, five-year data from the FIREFISH clinical trial. The findings were presented at the…

More than half of the children with spinal muscular atrophy (SMA) type 1 who received disease-modifying therapies (DMTs) in their first year of life showed cognitive deficits in a recent study. Cognitive problems were more likely in boys and in those who required assisted ventilation or feeding. “Given…

An 8-month-old girl with a clinical and genetic diagnosis of spinal muscular atrophy (SMA) type 1 saw her condition improve after starting treatment with Evrysdi (risdiplam), according to a recent case reported in China. Specifically, the treatment improved the girl’s muscle tone and head control as well…

A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…