Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project

• Main Authors: Farshad Niri (Author), Jessie Nicholls (Author), Kelly Baptista Wyatt (Author), Christine Walker (Author), Tiffany Price (Author), Rhonda Kelln (Author), Stacey Hume (Author), Jillian Parboosingh (Author), Margaret Lilley (Author), Hanna Kolski (Author), Ross Ridsdale (Author), Andrew Muranyi (Author), Jean K. Mah (Author), Dennis E. Bulman (Author)
• Format: Book
• Published: MDPI AG, 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the <i>survival motor neuron 1</i> (<i>SMN1</i>) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to...