Despite treatment with leuprorelin over three years, all spinal and bulbar muscular atrophy (SBMA) patients in a study in Korea continued to experience declines in motor function, a new study found. However, those individuals with less disability at the start of treatment experienced slower disease progression, “indicating a more…
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…
Genetic alterations related to two genes, SMN2 and NAIP, could help to predict the severity of spinal muscular atrophy (SMA), according to a recent analysis. Among patients with SMA type 1 and type 2 in Egypt, all of whom had standard disease-causing mutations in the SMN1 gene, fewer copies…
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…
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…
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…
Difficulties with adequate nutrition and feeding persist among children and adolescents with spinal muscular atrophy (SMA) types 2 and 3 being treated with Spinraza (nusinersen), a Norwegian study reports. Important nutrients, such as protein, fiber, vitamins, and minerals, often were consumed in lower-than-recommended amounts by these patients, while…
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,…
