A young boy and three of his relatives were found to carry a new mutation that was the likely cause of their spinal muscular atrophy with lower extremity predominance, known as SMA-LED, according to a report from China. Researchers mapped the mutation to the DYNC1H1 gene, which has been…
The U.S. Food and Drug Administration (FDA) has given fast track designation to Biohaven Pharmaceuticals‘ experimental medicine taldefgrobep alfa for the treatment of spinal muscular atrophy (SMA). The designation is granted to therapies that show potential in addressing serious conditions for which available treatments fall short. It is…
Young children with spinal muscular atrophy (SMA) feel more fearful and sad, and may have a harder time recovering from distress than children who are healthy or have other conditions, a small study in India has found. These patients also seem to have more difficulty expressing their feelings or…
Researchers in Japan are conducting a study to better understand the natural history of spinal muscular atrophy (SMA) and how well disease-modifying therapies work in the real-world setting. The Biogen Japan-sponsored study will draw on data from the Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA), which…
The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) was safe and effective in a baby girl with spinal muscular atrophy (SMA) type 1 who was previously on Evrysdi (risdiplam) for about three months, a case study reports. This likely represents the first report of safety and efficacy outcomes of…
A combination of in vitro fertilization and preimplantation genetic testing helped a couple in Indonesia — both carriers of mutations causing spinal muscular atrophy (SMA) — become parents of a healthy newborn, a case study reported. Their first daughter was diagnosed with SMA at 7 months, and she died of disease-related complications…
Currently used clinical scales for men with spinal and bulbar muscular atrophy (SBMA) can be easily and reliably used remotely to monitor disease progression when patients are unable to visit a doctor’s office, according to a study in Italy. The study, “Reliable virtual clinical assessment in spino-bulbar muscular…
Hip pain is about four times more common among children with spinal muscular atrophy (SMA) type 2 than among those with type 1 disease, according to a study on pediatric patients who were unable to walk. While nearly all children had evidence of hip joint problems on X-ray…
People with spinal muscular atrophy (SMA) feel the need to engage in physiotherapy exercises, which they see as a beneficial intervention, but most don’t adopt a special diet, despite frequent nutrition-related problems. These are the findings of a survey by SMA Europe presented through a poster at the…
Spinraza (nusinersen) may restore the normal development of motor neurons — the nerve cells responsible for making muscle cells work — in children with spinal muscular atrophy (SMA), particularly those who start treatment early, a study found. Besides getting motor neurons back onto their developmental trajectory, Spinraza also may slow their…
Get regular updates to your inbox.
