CLN2患儿的物理治疗

Q3 Medicine

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI:10.1590/2326-4594-jiems-2019-0009

Ina von Löbbecke

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引用次数: 0

摘要

CLN2疾病(2型神经性ceroid lipofuscinosis)是一种罕见的遗传性、儿科发病的神经退行性溶酶体贮积障碍，其特征为癫痫发作、共济失调、运动功能和语言能力迅速丧失、痴呆、视力丧失和早期死亡。物理治疗在CLN2疾病的管理中起着重要作用，旨在维持儿童的最佳功能和自主性，支持儿童参与日常生活，限制继发性并发症并维持或改善

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Physiotherapy for Children with CLN2 Disease

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

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来源期刊

Journal of Inborn Errors of Metabolism and Screening

CiteScore

0.60

自引率

0.00%

发文量

审稿时长

12 weeks

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.