Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie
{"title":"Spinal muscular atrophy with severe scoliosis: a case report","authors":"Dikahayu Alifia Anugrah, Sunartini Sunartini, Mohammad Juffrie","doi":"10.14238/pi63.4.2023.315-20","DOIUrl":null,"url":null,"abstract":"Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1","PeriodicalId":19660,"journal":{"name":"Paediatrica Indonesiana","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2023-08-16","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/pi63.4.2023.315-20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1
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