[Rehabilitation of orphan diseases in adulthood: osteogenesis imperfecta]
M Gehlen1, M Schwarz-Eywill2, C Hinz2
1Fachklinik für Rheumatologie, Orthopädie und Osteologie, Osteologisches Schwerpunkt- und Forschungszentrum DVO, Klinik Der FÜRSTENHOF, Am Hylligen Born 7, 31812, Bad Pyrmont, Deutschland. gehlen@staatsbad-pyrmont.de.
Abstract:
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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