Among women of reproductive age in a southern region of China, one in every 59 tested in a screening program was found to be a carrier of mutations in the SMN1 gene — the main cause of spinal muscular atrophy (SMA) — a new study reports. In the southern…
Long-term treatment with Spinraza (nusinersen) was associated with improved or stable motor function in patients across the spinal muscular atrophy (SMA) disease spectrum, according to an analysis of real-world registry data. “To date, this is the largest prospective study over the longest observational period of [Spinraza] therapy in…
The case of a 4.5-year-old girl with spinal muscular atrophy (SMA) type 2 who had acute pain and swelling in her legs after physiotherapy due to multiple fractures was recently described in India. The child had poor bone health, but the fractures were considered linked to…
Measures of grip strength or mobility may help to capture subtle changes in upper limb function for children with spinal muscular atrophy (SMA), particularly for patients who are overall less severely affected, according to findings from a recent study. The Revised Upper Limb Module (RULM), which is a standard…
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…
Levels of the neurofilament light protein, known as NfL — which serves as an indicator of neurodegeneration — may be a helpful biomarker for monitoring disease progression and treatment responses in children with spinal muscular atrophy (SMA), a new review study suggests. Across six published studies, culled from more…
A team of scientists in Iowa have created a super minigene  — a small gene fragment used as a tool to study genetic manipulation — that recapitulates essential features of the natural SMN1 and SMN2 genes linked to spinal muscular atrophy (SMA) and its severity. One of the most…
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…
A young woman with spinal muscular atrophy (SMA) type 2 gave birth to a premature baby boy with the help of a multidisciplinary team despite having severe breathing problems, according to a report. The woman’s shortness of breath got worse during pregnancy and she began using…
Despite concerns about long-term efficacy and safety, gene therapy was the first choice treatment for most parents of children with spinal muscular atrophy (SMA), whether diagnosed via newborn genetic screening or symptoms, according to a new survey study. However, the amount and type of information parents received upon their…
