[Rehabilitation of orphan diseases in adulthood: osteogenesis imperfecta].

Z Rheumatol

St. Josef Stift, Abteilung für Rheumatologie, Nordwestdeutsches Rheumazentrum, Sendenhorst, Deutschland.

Published: February 2021

Osteogenesis imperfecta (brittle bone disease) is an orphan disease caused by a genetic mutation in collagen metabolism. Bone fractures are the most common symptoms; however, the clinical manifestation can vary widely. Additional features can include blue sclera, dwarfism, bone deformities, muscular weakness, scoliosis, hearing loss and hypermobility of joints. Most patients show a reduction of skeletal function. This leads to an increased risk of being unable to continue their former work and to participate in social life. A comprehensive treatment includes drug therapy, surgery and rehabilitation. This article gives an overview of the current status of rehabilitation in adult patients with osteogenesis imperfecta.

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Source
http://dx.doi.org/10.1007/s00393-020-00927-8DOI Listing

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