SMA type 1

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…

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…

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,…

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…

Treatment with Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec) led to increases in the electrical activity of motor neurons — the specialized nerve cells that control voluntary movement — for two young children with type 1 spinal muscular atrophy (SMA), according to a new report. Findings from tests…

Children with spinal muscular atrophy (SMA) type 1 may be at an increased risk of developing kidney stones, suggesting the condition may be more common than previously thought, according to a small study in Turkey. It’s possible that nephrolithiasis — the medical term for kidney stones — has been…

Compared to what would be expected without treatment, the approved oral therapy Evrysdi (risdiplam) led to marked benefits in survival and motor outcomes for babies with spinal muscular atrophy (SMA) type 1, according to a comparison of clinical trial data. “Untreated infants with Type 1 SMA ……