The utility of compound muscle action potential and creatinine in childhood spinal muscle atrophy

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder precipitated by mutations in the survival motor neuron 1 gene (SMN1). Given the significant heterogeneity in patients' responses to Nusinersen treatment, there is an urgent need for sensitive biomarkers in SMA to accurately evaluate the beneficial effects of these therapeutic in...

Topics

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• Biomarkers
• Disease Models, Animal
• Motor Neurons
• Muscle, Skeletal
• Muscular Atrophy, Spinal
• Mutation
• Neurogenetic and Muscular Disorders Research
• Phenotype

Identifiers and source

Literature Corpus work

7e845f6a-39da-5d38-8dec-f6d0c5d5d722

DOI

10.21203/rs.3.rs-6686700/v1