Article

A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy

2025-06-25

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in the survival motor neuron gene, <italic>SMN1</italic>. Loss of <italic>SMN1 </italic>function results in deficiency of the SMN protein leading to motor neuron death, muscle wasting, and progressive loss of motor function. Two disease modifying therapies have been approved for teens a...

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Literature Corpus work: 08bd6d5e-b550-5ca2-8699-c0ae2ac21db3
DOI: 10.21203/rs.3.rs-6917745/v1

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