Real-world treatment with Zolgensma (onasemnogene abeparvovec-xioi) was associated with motor and survival benefits for people with spinal muscular atrophy (SMA), data from the RESTORE patient registry shows. Greater motor improvements and a better safety profile were generally seen in those who’d been diagnosed via…
Difficulties with adequate nutrition and feeding persist among children and adolescents with spinal muscular atrophy (SMA) types 2 and 3 being treated with Spinraza (nusinersen), a Norwegian study reports. Important nutrients, such as protein, fiber, vitamins, and minerals, often were consumed in lower-than-recommended amounts by these patients, while…
About 43% of children with early-onset spinal muscular atrophy (SMA) were reported to have neurodevelopmental problems in a recent international survey of clinicians. Such issues, including intellectual disabilities, speech delays, or problems with social communication and interaction, have not historically been considered a key part of the disease presentation,…
Throughout 2023, SMA News Today brought you the most up-to-date news on scientific breakthroughs and treatment advances related to spinal muscular atrophy (SMA). These are the top 10 most-read articles we published throughout that year, with a brief reminder of what made them relevant to the SMA community. We…
A novel mutation in the ASAH1Â gene was identified as the cause of severe fluid buildup with swelling (hydrops fetalis) and cardiac abnormalities in an unborn fetus who later died from the complications in a recent report. ASAH1 mutations are associated with a spectrum of different genetic rare disorders, including…
Three young people with severe spinal muscular atrophy (SMA) type 1 and treated with Spinraza (nusinersen) after their disease had already significantly advanced were seen by their caregivers to better control their finger and face movements, according to a Japanese report. The gains helped the patients, who depended…
A type of surgery to correct scoliosis, a spine deformity, was found to be generally safe and effective in young people with spinal muscular atrophy (SMA) type 1, a small study shows. Called growth friendly instrumentation, the procedure had been well established for people with SMA type…
People with spinal muscular atrophy (SMA) cleared acetaminophen, a common ingredient in pain medications, slower than healthy people, but this was generally not associated with evidence of liver toxicity for most patients, a study shows. Only one of 12 SMA patients developed elevations in markers of liver dysfunction, but…
Disruptions to norepinephrine (NE), a brain signaling molecule, appear to be due to SMN protein loss and could contribute to disease progression in spinal muscular atrophy (SMA) patients, according to recent research. Levels of the molecule, as well as the enzymes needed to produce it, were deficient in a…
Existing tools for assessing fatigue may not be enough to capture differences in fatigue severity between adults with different types of spinal muscular atrophy (SMA), according to a recent survey conducted by patient advocacy group Cure SMA. SMA patients generally had more fatigue than adults in the general…
