Browsing by Autor "María Fernández-De La Torre"

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    USE OF SMALL MOLECULES IN SPINAL MUSCULAR ATROPHY TYPE 3: A CASE REPORT
    (2023) Carlos Molina-Castillo; María Elena Meza-Cano; María Fernández-De La Torre; Ana Paula Solórzano-Anduiza; Roberto Loyo-González; Regina Sayún-Yoma; José Ángel Aguerrebere-Lupi
    Introduction: Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder that presents with peripheral hypotonia, atrophy, and weakness in the limbs and bulbar muscles. It is caused by the homozygous deletion of the SMN1 gene on chromosome 5q13. Prior to 2016, there was no disease-modifying treatment; Subsequently, a series of drugs were approved for which there is strong evidence regarding the presence of improvement and stabilization of motor function: Nusinersen, Risdiplam, and onasemnogene abeparvovec xioi. Clinical case: A 24-year-old woman diagnosed with SMA at age 15 with proximal weakness of four extremities associated with atrophy and peripheral hypotonia. She is previously treated with general support measures prior to starting disease-modifying treatment: Nusinersen for 9 doses and subsequently Risdiplam. The MFM 32 motor function scales, bulbar function using the CNS BFS scale (Center of neurologic study bulbar function scale), as well as quality of life using the Qol NMD scale, are evaluated.