Spinal muscular atrophy: advances in research and consensus on care of patients

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons and muscular atrophy. Advances in recent research have led to understanding of the molecular genetics of SMA. Therapeutic strategies have been developed according to the unique genomic structure of the SMN genes. Three groups of compounds have been identified as therapeutic candidates. One group was identified before the molecular genetics of SMA was understood, chosen on the basis of their effectiveness in similar neurologic disorders. The second group was identified based on their ability to modify SMN2 gene expression. Several of these agents are currently in clinical trials. A third group, identified by large-scale drug screening, is still under preclinical investigation. In addition, other advances in medical technology have led to the publication of a consensus statement regarding the care of SMA patients.