Newborn screening for spinal muscular atrophy allows for earlier diagnosis in preterm infants, leading to earlier use of disease-modifying therapies, in the presymptomatic stage, and better long-term prognosis.
A new study analyzed health-related quality of life (HRQoL) using 5 generic and neuromuscular disease-specific rating scales in German children with spinal muscular atrophy (SMA), most of whom were receiving disease-modifying therapies.
In children with spinal muscular atrophy, oximetry had value in predicting abnormal polysomnography, but transcutaneous carbon dioxide (TcCO2) was not useful.