Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Maria Carmela PeraGiorgia CorattiBeatrice BertiAdele D'AmicoMaria SframeliEmilio AlbamonteRoberto de SanctisSonia MessinaMichela CatterucciaGiorgia BrigatiLaura AntonaciSimona LucibelloClaudio BrunoValeria A SansoneEnrico BertiniDanilo TizianoMarika PaneEugenio MercuriPublished in: PloS one (2020)
Our results suggest that despite improved care recommendations there is still a marked diagnostic delay, especially in type III. At the time new therapies are becoming available more attention should be devoted to reducing such delay as there is consistent evidence of the benefit of early treatment.