Author Archives: Lindsey Shapiro PhD

The case of a man with clinical signs of muscular dystrophy who was ultimately diagnosed with adult-onset spinal muscular atrophy (SMA) was described in a recent case report. Researchers hope the findings highlight that when signs of muscular dystrophy, such as enlarged muscles, are observed it does…

Women with neuromuscular diseases in Denmark reported significant challenges in urinating outside of their own homes, leading to avoidance of urinating or drinking in public, according to a recent interview-based study. The findings emphasize a need for public health solutions to make it easier for women with disabilities, including…

Researchers have developed an artificial intelligence (AI)-based algorithm to help predict the presence of scoliosis in spinal muscular atrophy (SMA) patients based on clinical features routinely collected at the doctor’s office. “Our predictive model … could augment clinical decision-making in the future by offering quantified probabilities of…

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…

Researchers have designed a way to help therapies like Spinraza (nusinersen) — approved for spinal muscular atrophy (SMA) — better access the brain and spinal cord when delivered into the bloodstream. In a recent report, the scientists linked a molecule similar to Spinraza with small protein fragments…

Liver issues may be an understudied manifestation of spinal muscular atrophy (SMA), according to a new study suggesting liver involvement in patients warrants greater consideration during disease management. Among a small group of SMA patients, three-quarters showed signs of fat accumulation in the liver, with a few also…

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.

Researchers described what they believe to be the oldest asymptomatic person with genetically confirmed spinal muscular atrophy (SMA) to have ever been reported in a case study. The 60-year-old man, who came in with symptoms of numbness thought to be due to a pinched nerve in the neck,…

Switching to oral Evrysdi (risdiplam) from another disease therapy is safe for spinal muscular atrophy (SMA) patients, with side effects similar to those observed in clinical trials involving patients new to treatment, according to a two-year analysis from the JEWELFISH clinical trial. Exploratory efficacy analyses also suggest…

Spinal muscular atrophy (SMA) patients in the U.S. exhibited high rates of adherence to their prescribed regimen of Evrysdi (risdiplam) over a year, according to a recent analysis of pharmacy prescription fill data. “High adherence to and persistence with [Evrysdi] were observed among patients with SMA over…