Sevria Yetty Anggraina Noer, Sunartini Sunartini, P. Suryantoro
{"title":"非动态杜氏肌营养不良:单个病例的观察、干预和结果","authors":"Sevria Yetty Anggraina Noer, Sunartini Sunartini, P. Suryantoro","doi":"10.14238/pi62.3.2022.208-16","DOIUrl":null,"url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a X-linked recessive gene defect manifesting as a fatal, progressive neuromuscular disease. Treatment goals aim to inhibit disease progression, increase patients’ quality of life, and lengthen life expectancy. We report here a single case of non-ambulatory DMD.","PeriodicalId":19660,"journal":{"name":"Paediatrica Indonesiana","volume":"104 1","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2022-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Non-ambulatory Duchenne muscular dystrophy: observations, interventions, and outcomes on a single case\",\"authors\":\"Sevria Yetty Anggraina Noer, Sunartini Sunartini, P. Suryantoro\",\"doi\":\"10.14238/pi62.3.2022.208-16\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Duchenne muscular dystrophy (DMD) is a X-linked recessive gene defect manifesting as a fatal, progressive neuromuscular disease. Treatment goals aim to inhibit disease progression, increase patients’ quality of life, and lengthen life expectancy. We report here a single case of non-ambulatory DMD.\",\"PeriodicalId\":19660,\"journal\":{\"name\":\"Paediatrica Indonesiana\",\"volume\":\"104 1\",\"pages\":\"\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-07-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Paediatrica Indonesiana\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14238/pi62.3.2022.208-16\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatrica Indonesiana","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14238/pi62.3.2022.208-16","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Non-ambulatory Duchenne muscular dystrophy: observations, interventions, and outcomes on a single case
Duchenne muscular dystrophy (DMD) is a X-linked recessive gene defect manifesting as a fatal, progressive neuromuscular disease. Treatment goals aim to inhibit disease progression, increase patients’ quality of life, and lengthen life expectancy. We report here a single case of non-ambulatory DMD.