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Review
. 2014 Oct 25:12:151.
doi: 10.1186/s12955-014-0151-y.

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

Maman Joyce Dogba  1   2 , Frank Rauch  3 , Erin Douglas  4 , Christophe Bedos  5   6
Affiliations
Review

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

Maman Joyce Dogba et al. Health Qual Life Outcomes. .

Abstract
in English, French

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.

L’achondroplasie, la dystrophie musculaire de Duchenne et l’ostéogenèse imparfaite sont des maladies génétiques rares du système musculo-squelettique pédiatrique. On assiste à un intérêt croissant pour l’étude des maladies génétiques rares dont la plupart sont handicapantes et ont des conséquences néfastes sur familles, les patients et les systèmes de santé. Malgré leurs spécificités, certaines conséquences des maladies génétiques rares sont communes et gagneraient à être étudiées de façon générique. Cependant, plusieurs travaux continuent d’adopter une approche spécifique à une maladie. Par ailleurs, on assiste à un foisonnement de termes qui évaluent les conséquences des maladies génétiques rares (qualité de vie, impact, effet, fardeau etc.…). Si ce pléthore de termes reflète la complexité du sujet, il rend difficile la synthèse et la comparaison entre maladies. Dans cet article, les auteurs classifient puis effectuent une revue narrative et comparative des impacts de trois maladies génétiques musculo-squelettiques pédiatriques: l’achondroplasie, la dystrophie musculaire de Duchenne et l’ostéogenèse imparfaite.

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Figures

Figure 1
Figure 1
Study selection flow diagram.
Figure 2
Figure 2
Framework redefining impacts of rare genetic diseases.
See this image and copyright information in PMC

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