Universal newborn screening for spinal muscular atrophy in Ukraine

Abstract

Spinal muscular atrophy is an autosomal recessive condition characterised by progressive muscle atrophy and weakness. Spinal muscular atrophy is caused by the deficit of SMN protein that results with homozygous deletion of SMN1 in 96% of patients.1 In its most frequent and severe form, untreated spinal muscular atrophy leads to death or permanent ventilation before the age of 2 years. Three drugs that increase SMN protein through SMN2 splicing modification or SMN gene transfer are currently approved.1 Several trials have shown the superior efficacy of early treatment, leading to newborn screening programmes in several countries2 with a large reduction in disease management costs.3 Because the screening is based on a genetic test, in contrast to traditional screening for metabolic and endocrine disorders, newborn screening for spinal muscular atrophy leads to logistical or ethical challenges in some countries.