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…
Spinraza (nusinersen), a treatment for spinal muscular atrophy (SMA) that helps improve motor function, was found to also improve lung function in a 10-year-old girl with advanced SMA type 2, a case report says. The report, “Nusinersen improved respiratory function in spinal muscular atrophy type 2,”…
A hospitalized 3-year-old with spinal muscular atrophy (SMA) type 1 died after being infected by the virus that causes COVID-19 and having a widespread inflammatory response — unusual in infected children — known as multisystem inflammatory syndrome, a case report found. This girl’s case “highlights the importance of close surveillance,…
The UK SMA Newborn Screening Alliance is calling on people to take action and sign a petition requesting that spinal muscular atrophy (SMA) to be added to the U.K.’s National Health System (NHS) newborn screening program and funded. U.K. citizens and residents can sign the petition, which is collecting…
