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.
Mice born with Spinal Muscular Atrophy typically only live five to six days. University of Missouri researchers introduced the SMN gene into the mice’s central nervous systems and were able to extend their lives 10-25 days longer.