Researchers believe they have discovered a promising new treatment for spinal muscular atrophy, a leading genetic cause of death in children.
A study suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought. In a second study, the researchers identified the molecular pathway in SMA that leads to problems with motor function.
A new study implicates a key cellular mechanism as defective in SMA for the first time, providing a new lead for developing future interventions.
Zolgensma, an FDA approved gene therapy, supplements the production of the SMN protein to improve motor neuron function in children with spinal muscular atrophy after just one dose.
A new drug shows promise for improving outcomes for people with SMA.
