Browsing by Autor "Carlos Molina-Castillo"

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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.
Uso de las terapias modificadoras en atrofia muscular espinal 5q en México
(National Institutes of Health, 2024) María Elena Meza-Cano; Carlos Molina-Castillo
5q Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that causes weakness in the limbs, trunk, diaphragm, and bulbar muscles; without treatment it can lead to severe motor disability and even death. The Food and Drug administration (FDA) and COFEPRIS (Mexico's Federal Committee for Protection against Sanitary Risks) have approved 3 therapies to increase the production of survival motor neuron (SMN) protein and improve muscle strength and quality of life in patients: nusinersen, onasemnogene abeparvovec xioi, and risdiplam. Despite the fact that these therapies have shown efficacy, at the moment it is not possible to establish which of them is superior compared to the others. The most important thing is to establish the diagnosis of the disease and start any of the available treatments to avoid further functional disability and prevent death. The 3 treatments have different mechanisms of action and different adverse effects, and the use of each of them must be individualized according to the patient's profile.