Litcius/Paper detail

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Jacqueline Glascock, Jacinda B. Sampson, Anne M. Connolly, Basil T. Darras, John W. Day, Richard S. Finkel, R. Rodney Howell, K. Klinger, Nancy L. Kuntz, Thomas W. Prior, Perry B. Shieh, Thomas O. Crawford, Douglas A. Kerr, Jill Jarecki

2020Journal of Neuromuscular Diseases137 citationsDOIOpen Access PDF

Abstract

In early 2018, Cure SMA convened a group of expert clinicians and scientists to develop a treatment algorithm using a reiterative surveying modified Delphi technique for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS). The findings and recommendations of this group were previously published here in May 2018 [1].

Topics & Concepts

Spinal muscular atrophyMedicinePediatricsNewborn screeningInternal medicineDiseaseNeurogenetic and Muscular Disorders ResearchCongenital Anomalies and Fetal SurgeryCongenital Diaphragmatic Hernia Studies