Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Federica TruccoDeborah RidoutMariacristina ScotoGiorgia CorattiMarion L MainRobert Muni LofraAnna G MayhewJacqueline MontesMarika PaneValeria SansoneEmilio AlbamonteAdele D'AmicoEnrico BertiniSonia MessinaClaudio BrunoDeepak ParasuramanAnne-Marie ChildsVasantha GowdaTracey WillisMin OngChiara Marini-BettoloDarryl C De VivoBasil T DarrasJohn DayElizabeth A KichulaOscar H MayerAledie A Navas NazarioRichard S FinkelEugenio MercuriFrancesco Muntoninull nullPublished in: Neurology (2020)
In SMA type 2 and nonambulant type 3, lung function declines differently, with a common leveling after age 13 years. Lung and motor function correlated in both subtypes. Our data further define the milder SMA phenotypes and provide information to benchmark the long-term efficacy of new treatments for SMA.