Variations in more than a dozen genes related to inflammation, neurodevelopment, and oxidative stress associate with the severity of spinal muscular atrophy (SMA) and disease type, as well as person’s age at onset and their motor and lung function, researchers report. “Further exploration of these pathways offers a…
Children with spinal muscular atrophy (SMA) are at a higher risk of hospitalization due to respiratory tract infections, including those caused by the respiratory syncytial virus (RSV), a small, single-center study in Switzerland suggests. Although 1 in 4 hospitalizations was due to an RSV infection, all the children with…
Oral strength and endurance — important for functions like swallowing, speaking, and chewing — were found diminished in adults with spinal muscular atrophy (SMA) in three out of five assessments, according to a new study. In particular, untreated SMA type 2 patients who couldn’t walk had the most…
A new large-scale genetic screening technique for spinal muscular atrophy (SMA) called comprehensive SMA analysis, or CASMA, was more effective at detecting disease-related mutations in carriers than standard approaches, a study reports. CASMA “is a simple and accurate screening method for SMA, which shows greater clinical efficacy in the…
Treatment for 10 months with Spinraza (nusinersen) normalized the activity of 38 genes in adults with spinal muscular atrophy (SMA), a genetic study showed. Among the normalized genes were those involved in immune signaling pathways — findings that are “in line with the potential of this therapy to…
Nearly two-thirds of adults in South Korea with spinal muscle atrophy (SMA) type 2 or type 3 were initially misdiagnosed, according to a recent study. In type 2 cases, the primary misdiagnosis was a developmental delay, while muscular dystrophy was the main misdiagnosis in type 3…
The gene therapy Zolgensma (onasemnogene abeparvovec-xioi), given as a sole treatment, improves motor skills and preserves lung health and feeding abilities in infants with spinal muscular atrophy (SMA) type 1, according to a real-world study. Despite such benefits to patients treated at a mean age of 7.5 months,…
Surgery to correct scoliosis, a sideways curvature of the spine, slowed lung function decline in people with spinal muscular atrophy (SMA) type 2 and 3 who had yet to receive treatment, a study focusing on secondary outcomes reported. While all participants reported overall satisfaction with posture and physical…
The use of ultrasound to guide the administration of Spinraza (nusinersen) injection into the spinal canals of adults with spinal muscle atrophy (SMA) significantly reduced the number of needle redirections compared with a standard, landmark-based approach, according to a clinical trial. Among patients with spinal deformities, ultrasound helped…
Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improves motor function in children with spinal muscular atrophy (SMA) who carry at least four copies of the so-called backup SMN2 gene, according to real-world data from the RESTORE patient registry. SMA children treated with the approved gene therapy achieved several motor milestones…
