{"title":"Physiotherapy for Children with CLN2 Disease","authors":"Ina von Löbbecke","doi":"10.1590/2326-4594-jiems-2019-0009","DOIUrl":null,"url":null,"abstract":"CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early death. Physiotherapy plays an important role in the management of CLN2 disease, aiming to maintain the best possible functioning and autonomy of the child, support the child’s participation in everyday life, limit secondary complications and maintain or improve","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"26 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Inborn Errors of Metabolism and Screening","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/2326-4594-jiems-2019-0009","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early death. Physiotherapy plays an important role in the management of CLN2 disease, aiming to maintain the best possible functioning and autonomy of the child, support the child’s participation in everyday life, limit secondary complications and maintain or improve
期刊介绍：
The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.
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