Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects 1 in 10,000 newborns [1,2]. SMA is linked in 95% of cases to a homozygous deletion of the SMN1 gene, the remaining 5% are caused by a heterozygous deletion and a point mutation on the other allele. Humans possess a variable number of copies of a closely related gene, SMN2 [3]. The severity of SMA depends largely on SMN2 copy number, with lower copy numbers associated with a more severe phenotype [4], but several exceptions and other genetic modifiers have been reported.

Source: Neuromuscular Disorders - December 2, 2023 Category: Neurology Authors: Tamara Dangouloff, Praveen Thokala, Matthew D Stevenson, Nicolas Deconinck, Ad èle D'Amico, Aurore Daron, Stephanie Delstanche, Laurent Servais, Mickael Hiligsmann Source Type: research