A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned

Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of...

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Bibliographic Details
Published in:International Journal of Neonatal Screening
Main Authors: Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J. Butterfield
Format: Article
Language:English
Published: MDPI AG 2024-07-01
Subjects:
spinal muscular atrophy
newborn screening
outcomes
Online Access:https://www.mdpi.com/2409-515X/10/3/54

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