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Comment on “Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice”

2026-08-01

Abstract excerpt

Spinal muscular atrophy (SMA) is the most common neurodegenerative genetic disorder. It is associated with insufficient survival motor neuron (SMN) protein, which causes progressive motor neuron degeneration, skeletal and respiratory muscle weakness, and early death in the most severe untreated cases. Earlier treatment is associated with improved outcomes, making carrier screening an important part of prenatal car...

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Literature Corpus work: 041525ec-42d6-5860-9533-585736293450
DOI: 10.1097/ogx.0000000000001616

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