A group of European experts has published updated recommendations for using the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) in people with spinal muscular atrophy (SMA) that includes new cautions with older, heavier patients. “2024 Update: European Consensus Statement on Gene Therapy for Spinal Muscular Atrophy,” was…

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…

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, was…

A program designed to provide data and tools for people with spinal muscular atrophy (SMA) identified through newborn screening (NBS) can help families and clinicians engage with public health agencies and ensure the best possible outcomes, a study found. The Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and…

An early spinal muscular atrophy (SMA) diagnosis with the help of a newborn screening program, and treatment with disease-modifying therapies before symptom onset, may prevent the development of SMA symptoms, according to a new study in Italy. The study found that children born without symptoms who started treatment shortly…

Without treatment, most people with spinal muscular atrophy (SMA) who have four copies of the “backup” SMN2 gene will start developing symptoms in early childhood, a study indicates. “The early onset of symptoms in our cohort, coupled with the expected wide clinical variability, strongly supports the characterization of SMA…

Infants with suspected spinal muscular atrophy (SMA) who are directly referred to an SMA care center may experience shorter wait times than those referred to general neurology practices, according to a survey of these specialists deployed by Cure SMA. While both types of practices reported using triage methods…

Children with spinal muscular atrophy (SMA) can still experience swallowing difficulties despite early treatment with disease-modifying therapies, a small study shows. Swallowing was either incomplete, with liquid remaining in the mouth and/or esophagus, and/or unsafe due to aspiration (the inhalation of liquid into the lungs), in all of the…

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…

Treatment with the gene therapy Zolgensma (onasemnogene abeparvovec) led to improved breathing and motor function for a young boy who was experiencing unstable spinal muscular atrophy (SMA) symptoms on Spinraza (nusinersen), according to a case report from Japan. A year after receiving Zolgensma at the age of…