{"title":"[墨西哥 5q 型脊髓性肌萎缩症患者使用改变病情疗法的情况]。","authors":"María Elena Meza-Cano, Carlos Molina-Castillo","doi":"10.5281/zenodo.12668159","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94200,"journal":{"name":"Revista medica del Instituto Mexicano del Seguro Social","volume":"62 5","pages":"1-7"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico].\",\"authors\":\"María Elena Meza-Cano, Carlos Molina-Castillo\",\"doi\":\"10.5281/zenodo.12668159\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":94200,\"journal\":{\"name\":\"Revista medica del Instituto Mexicano del Seguro Social\",\"volume\":\"62 5\",\"pages\":\"1-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista medica del Instituto Mexicano del Seguro Social\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5281/zenodo.12668159\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista medica del Instituto Mexicano del Seguro Social","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5281/zenodo.12668159","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico].
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.