Article

Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature

2023-05-17

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease. It is caused by mutations in the survival motor neuron1 (SMN1) gene on chromosome 5. The degeneration of lower motor neurons is the main feature. Current research focuses on the motor, respiratory, and swallowing systems of SMA children, and there are few studies on cognitive impairment. These studies evaluate the cogn...

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Literature Corpus work: 4acf2ff2-5843-54fe-aabf-80730d333806
DOI: 10.21203/rs.3.rs-2880502/v1

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