Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease that is the main genetic cause of death in infants and young children. It is caused by a loss or defect in the motor neuron 1 (SMN1) gene, leading to a decrease in SMN protein levels. The homologous SMN2 gene binds to the truncated mRNA and produces only a small amount of functional SMN protein. Insufficient SMN protein levels are responsible for the loss of motor neurons in the spinal cord, muscle atrophy, and the worst deaths. It is estimated that this devastating disease affects every 11,000 newborns.