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

• Main Authors: Kristen N. Wong (Author), Melissa McIntyre (Author), Sabina Cook (Author), Kim Hart (Author), Amelia Wilson (Author), Sarah Moldt (Author), Andreas Rohrwasser (Author), Russell J. Butterfield (Author)
• Format: Book
• Published: MDPI AG, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...