0000000000133352

AUTHOR

Pegoraro Elena

showing 1 related works from this author

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.

2022

ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type,SMN2copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0…

Settore MED/39 - NEUROPSICHIATRIA INFANTILESettore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVEspinal muscular atrophy; smaepidemiologySettore MED/26 - NeurologiaNeurology (clinical)Spinal muscular atrophy (SMA) disease modifying therapies SMN1 SMN2 prevalenceITALIAN REGISTRYsmaSettore MED/42 - IGIENE GENERALE E APPLICATAPREVALENCEspinal muscular atrophyNeurology
researchProduct