A woman with a long history of muscle weakness was found to have spinal muscular atrophy (SMA) in her late 40s, a diagnosis that was prompted by her unsteady walk and records that showed her parents were blood relatives, a case report indicates. “There are few cases reported of…
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Survival outcomes in spinal muscular atrophy (SMA) are heavily influenced by age of onset, even among patients who are classified as having the same type of SMA, according to an analysis of more than three decades’ worth of data at a center in Thailand. In fact, data suggest…
Use of the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was generally well tolerated and led to improvements in motor function for most children with spinal muscular atrophy (SMA) who were treated at centers across Brazil. “This is the first Brazilian cohort to demonstrate the benefits of [gene therapy] in…
Researchers have developed an artificial intelligence (AI)-based algorithm to help predict the presence of scoliosis in spinal muscular atrophy (SMA) patients based on clinical features routinely collected at the doctor’s office. “Our predictive model … could augment clinical decision-making in the future by offering quantified probabilities of scoliosis…
Chronic pain is common among people with spinal muscular atrophy (SMA) across all age groups, according to a Swiss study. Patients who had surgery to correct scoliosis, a sideways curvature of the spine, were most likely to have chronic pain, as were females and adolescents. “Awareness should be…
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 90% of children with spinal muscular atrophy (SMA) type 1 who started taking Evrysdi (risdiplam) as babies are still alive and achieving motor milestones that would be unattainable without treatment, according to final, five-year data from the FIREFISH clinical trial. The findings were presented at the…
A method that uses laser light to get information from inside the body in a noninvasive way may help monitor how spinal muscular atrophy (SMA) is progressing in real time and how children are responding to therapy, a study suggests. Signals from optoacoustic imaging, which can picture how well…
A two-week course of transcutaneous spinal cord stimulation (tSCS), a noninvasive method of stimulating the spinal cord using electrical impulses, can improve motor function, breathing, and knee motion in people with spinal muscular atrophy types 2 and 3, a study suggests. “Further studies are needed to elucidate the reasons…
Researchers have designed a way to help therapies like Spinraza (nusinersen) — approved for spinal muscular atrophy (SMA) — better access the brain and spinal cord when delivered into the bloodstream. In a recent report, the scientists linked a molecule similar to Spinraza with small protein fragments capable…
