Teleanu Raluca Ioana 1
1 “Dr. V. Gomoiu” Children’s Hospital, UMF “Carol Davila” Bucharest
Abstract
Spinal muscular atrophy (SMA) is an autosomal-recessive disorder caused by homozygous mutations in the survival motor neuron (SMN) gene. This can lead to dysfunction and loss of motor neurons of the anterior horn of the spinal cord and lower brain stem. The molecular pathophysiology of the disease is incompletely understood. Authors have reviewed current concepts on the treatment strategies for patients with spinal muscular atrophy. Valproic acid, known as an anticonvulsant, is a histone deacetylase inhibitor that can increase SMN protein levels in some SMA cells or SMA patients, through activation of SMN2 gene.