Case report examines the impact of Zolgensma and Risdiplam on motor function in infants with spinal muscular atrophy, indicating potential for improved outcomes.
Spinal muscular atrophy is a hereditary neuromuscular disease characterized by the degeneration of alpha motor neurons of the anterior horn of the spinal cord, leading to progressive symmetrical muscle weakness and a high risk for respiratory complications resulting in the need for some degree of ventilatory support. Two infants are presented with hypotonic syndrome in which spinal muscular atrophy was diagnosed by a genetic study. Gene therapy with Zolgensma® with subsequent combination treatment with Risdiplam (Everysdi®) was used to evaluate the clinical improvement in motor function according to the Chop Intend Scale.
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Cantú et al. (2025) studied this question.
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