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Newborn screening for spinal muscular atrophy: Anticipating an imminent need

This report reviews the current understanding of spinal muscular atrophy (SMA) pathogenesis, its clinical spectrum and pathognomonic features, the laboratory methods that have been used for detection and diagnosis, the current approaches to clinical management, and the promise of emerging therapeutic treatments. The current and future role of SMA-NBS is discussed, including the need for pilot studies that will allow the public health community to prepare for the availability of therapies with proven benefit in pre-symptomatic newborns.
 
Title: Newborn screening for spinal muscular atrophy: Anticipating an imminent need
Editor(s): Han C. Phan, MD, Jennifer L. Taylor, PhD, Harry Hannon, PhD, Rodney Howell, MD, FAAP, FACMG
Date: April 2015
Link: http://www.sciencedirect.com/science/article/pii/S0146000515000233