Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns

Abstract

Spinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA. This article reflects the evolution of clinicians’ views on the treatment of patients with SMA as scientific evidence from clinical trials and experience in managing patients in real‑world clinical practice accumulates. The biggest debate is about the treatment of patients with 4 copies of the SMN2 gene. An analysis of the “SMA Families” patient registry database was carried out; data on two patients with 4 copies of the SMN2 gene with early onset of the disease were presented.

Keywords

• spinal muscular atrophy
• gene <i>smn1</i>
• gene <i>smn2</i>
• 4 copies
• pathogenetical treatment