Spinal Muscular Atrophy (SMA) is a hereditary disease characterized by degenerating motor neuron in the spinal cord, resulting to weakness and wasting of muscles, particularly in the lower extremities. The condition results from the genetic inability to produce sufficient survival motor neuron (SMN) protein. To date, treatment of SMA has been limited primarily to management of symptoms, such as physical therapy, orthotic supports, and rehabilitation.

In a study involving 7 adult SMA patients, scientists from the Washington University School of Medicine in St. Louis were able to show that an epilepsy drug may hold potential as treatment for SMA. According to their results, Valproate (brand name: Depakote), seems to be able to increase the amount of SMN proteins in cell cultures by activating the SMN2 gene. Clinical observations showed that patient strength increased significantly over the course of 8-15 months of treatment with valproate. These results seem to complement results from a pilot study in Germany that first reported in vivo elevation of SMN2 RNA/protein by VPA in SMA.

Results of this 7-patient retrospective study will be published in the August 8 issue of Neurology. Authors note that a larger prospective trial will have to be conducted to to firmly establish valproate as a treatment of choice for SMA.

The Families of Spinal Muscular Atrophy is a comprehensive website dedicated to raising awareness and promoting research on SMA, as well as providing a support community to help families cope with SMA. See their website to see how you can help or be helped.