Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta

Health and Quality of Life Outcomes

Review

Christophe Bedos¹  Frank Rauch²  Erin Douglas²  Maman Joyce Dogba³ 

[1] Faculty of Dentistry, McGill University, 3550 University Street, H3A 2A7, Montreal, QC, Canada;Department of Social and Preventive Medicine, Faculty of Medicine, Université de Montréal, Succ. Centre-Ville, H3C 3 J7, C.P. 6128, Montreal, QC, Canada;Shriners Hospital for Children, 1529 Cedar Avenue, H3G 1A6, Montreal, QC, Canada;Shriners Hospital for Children, 1529 Cedar Avenue, H3G 1A6, Montreal, QC, Canada;Department of family and emergency medicine, Faculty of Medicine, Université Laval, 1050 Medicine Avenue, G1V0A6, Quebec, Canada;

关键词: Rare genetic diseases;    Societal and family impact;    Burden of care;    Achondroplasia;    Duchenne muscular dystrophy;    Osteogenesis imperfecta;    Quality of life;    Scoping review;   

DOI  :  10.1186/s12955-014-0151-y

 received in 2014-02-18, accepted in 2014-10-06,  发布年份 2014

来源: Springer

【 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.

【 授权许可】

CC BY   
© Dogba et al.; licensee BioMed Central. 2014