In a new interview-based study, adults with spinal muscular atrophy (SMA) reported a lack of care coordination during their transition from pediatric to adult care settings — along with poor communication, no clear transition plans, and a need to self-advocate. Despite these challenges, nearly three-quarters of patients still reported…
Gene therapy GC101 safely improves or stabilizes motor function in children and adolescents with spinal muscular atrophy (SMA) types 2 and 3, a small study reports. Genecradle Therapeutics is also running three Phase 1/2 clinical trials to test the gene therapy in people with SMA type 1 (…
Adults with spinal and bulbar muscular atrophy (SBMA) have elevated levels of neurofilament light (NfL) chain and glial fibrillary acidic protein (GFAP), two biomarkers for nerve damage, in the cerebrospinal fluid (CSF) that surrounds the brain and spinal cord, according to a study. Over two years, biomarker levels in…
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…
Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy…
Not all healthy children acquire full feeding skills by 2 years, according to a study that applied an instrument called DySMA — which assesses swallowing in infants and children with spinal muscular atrophy (SMA) who are undergoing treatment — to healthy children in a study to enable more…
Motor improvements in adults with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen) paralleled a boost in the strength and duration of electrical impulses along nerves that supply the muscles, a study shows. In an SMA mouse model, Spinraza restored dormant motor neurons, the nerve cells that aid…
Three men with late-onset spinal muscular atrophy (SMA) undergoing treatment with the approved therapy Evrysdi (risdiplam) were able to conceive with their partners, a case series reported. None of the pregnancies were planned, and the researchers noted there were no missed treatment doses. Among the three, one pregnancy…
A year of disease-modifying therapies (DMTs) improved motor function, particularly fine motor skills, in people with spinal muscular atrophy (SMA) who could sit, but not walk due to disease progression before they had access to treatment, a study reports. These functional improvements were independent of treatment-related gains in…
Powered, ride-on toy cars to help children with spinal muscular atrophy (SMA) type 1 be more mobile must be adapted for easy access and match a child’s motor abilities, according to parents who took part in a 12-week training program in Spain. The parents also said it’s important to…
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