News

A novel mutation in the ASAH1 gene was identified as the cause of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) in a 4-year-old boy, according to a recent report. Despite the genetically confirmed diagnosis, the boy showed no signs of myoclonic seizures, or brief muscle spasms, which…

Molecular markers in the liquid that surrounds the brain and spinal cord, called the cerebrospinal fluid (CSF), may help predict how well people with type 2 or 3 spinal muscular atrophy (SMA) respond to Spinraza (nusinersen), a study reports. The study’s researchers found that certain CSF molecules involved…

A group of questionnaires called PROfuture can meaningfully measure a variety of symptoms of spinal muscular atrophy (SMA) that impact patients, a study reported. “The PROfuture questionnaires, developed by patients for patients in the current era of new treatments for SMA, can help to better characterize the impact of…

Treatment with Evrysdi (risdiplam) is generally safe and effective at improving or stabilizing motor and lung function in adults with spinal muscular atrophy (SMA) for up to two years, according to a real-world study in Belgium. Results also suggested easing of difficulty swallowing and fatigue, as well as…

Interim results from a Phase 1 clinical trial show salanersen, Biogen’s treatment candidate for spinal muscular atrophy (SMA), slowed neurodegeneration, and improved motor function, in children with the genetic disease. The data also demonstrated that four of eight SMA children treated for at least one year attained new…

A real-world study of Spinraza (nusinersen) use in Switzerland among individuals with spinal muscular atrophy (SMA) found that, while patients tended to experience motor function benefits mostly in their first year of treatment, many continued to see gains or disease stabilization for four years. Spinraza treatment had the…

The use of salbutamol may safely improve upper limb strength, as well as provide other benefits, in people with spinal muscular atrophy (SMA), particularly among young children, according to data from a new meta-analysis — though the researchers noted that controlled studies are needed to confirm these findings. Two…

Muscle-related body composition measures improved in children with spinal muscular atrophy (SMA) types 2 and 3 who were treated with Spinraza (nusinersen), and the improvements correlated with better motor function, a study found. “Indicators of muscle mass increased in children with SMA types 2 and 3 as treatment…

The case of a woman with spinal muscular atrophy (SMA) type 2 who developed an abnormal accumulation of molecules called ketone bodies was described in a recent case report in the U.S. Called ketoacidosis, this occurs when fats are broken down to obtain energy, resulting in ketone bodies being…

It is with deep sadness and heavy hearts that we announce the passing of our beloved friend, coworker, and advocate, Michael Morale. Michael died in his home in Irving, Texas, on June 7 at the age of 59. I first encountered Michael through his personal YouTube channel in 2018.