Richard Finkel, MD, a pediatric neurologist at St. Jude Children’s Research Hospital, was included on a list of 100 individuals having a positive influence on global health in 2025, in recognition of his work treating childhood neuromuscular disorders such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Finkel…
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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…
SMA Europe will host its 1st International Clinical Care Symposium on SMA and focus on the biological causes of spinal muscular atrophy (SMA) and how to prevent and manage the symptoms that may lead to life-threatening emergencies. Titled, “Medical Emergencies in SMA: pathophysiology, prevention, and response,” the…
A study found that people with spinal muscular atrophy (SMA) have metabolic alterations due to impairments in how their bodies use fatty acids for energy. The results suggested a carbohydrate-rich diet may help normalize metabolism in SMA patients. The study, “Alterations of Fat and Ketone Body Metabolism…
It can be difficult for genetic counselors in the U.S. and Canada to explain indeterminate results of prenatal screening for spinal muscular atrophy (SMA), as patients are often confused or distressed before appointments, and misunderstandings are common among both patients and doctors. Results can be indeterminate in the case…
Liver damage may occur as a side effect of the spinal muscular atrophy (SMA) gene therapy Zolgensma (onasemnogene abeparvovec-xioi), but it usually resolves within a few months of treatment, a study showed. The researchers also found that simultaneous treatment with Zolgensma and Spinraza (nusinersen) does not seem to…
Starting Evrysdi (risdiplam) very early — just 12 days after his birth and before his symptoms appeared — was safe and helped a boy with spinal muscular atrophy (SMA) achieve key motor milestones, such as sitting and walking, within the normal time window. Adding to clinical evidence that…
Treatment with Spinraza (nusinersen) or Evrysdi (risdiplam) may help preserve upper limb motor function in children and young adults with spinal muscular atrophy (SMA) type 2, a natural history study in Spain shows. In the study, the researchers saw that upper limb motor function, measured using a clinical…
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…
