文章基本信息

标题：Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta
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作者：Maman Joyce Dogba ; Frank Rauch ; Erin Douglas 等
期刊名称：Health and Quality of Life Outcomes
印刷版ISSN：1477-7525
电子版ISSN：1477-7525
出版年度：2014
卷号：12
期号：1
页码：151
DOI：10.1186/s12955-014-0151-y
语种：English
出版社：BioMed Central
摘要：Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
关键词：Rare genetic diseases ; Societal and family impact ; Burden of care ; Achondroplasia ; Duchenne muscular dystrophy ; Osteogenesis imperfecta ; Quality of life ; Scoping review