Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder occurring in approximately 1 in 10,000 live births [1]. Characterized by degeneration of motor neurons, SMA leads to progressive muscle weakness and atrophy [2, 3]. It is caused by homozygous mutations in survival of motor neuron 1 gene (SMN1) resulting in SMN protein deficiency [2-4]. A closely homologous gene, SMN2, has variable copy numbers (with greater copy number being associated with lower disease severity [5]) and also produces SMN protein.

Source: Neuromuscular Disorders - February 3, 2021 Category: Neurology Authors: Nicole Gusset, Caroline Stalens, Eva Stumpe, Lori Klouvi, Alexandre Mejat, Marie-Christine Ouillade, Menc ía de Lemus Source Type: research