Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease

Abstract

Spinal muscular atrophy (SMA) is a progressive disease of the lower motor neurons associated with recessive loss of the SMN1 gene, and which leads to worsening weakness and disability, and is fatal in its most severe forms. Over the past six years, three treatments have emerged, two drugs that modify exon splicing and one gene therapy, which have transformed the management of this disease. When treated pre-symptomatically, many children show normal early motor development, and the benefits extend from the newborn period to adulthood. Similar treatment approaches are now under investigation for rare types of SMA associated with genes beyond SMN1.

Keywords: Gene therapy; Motor neuron disease; Newborn screening; Spinal muscular atrophy.