Osteogenesis imperfecta

Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. People with OI do not produce enough good quality collagen to produce healthy, strong bones. Collagen is an important protein and without a good enough supply the bones are weak and break very easily.

Treatment

At present there is no cure for OI so treatment is aimed at maintaining mobility and strengthening bones as much as possible.

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Physiotherapy is used to strengthen muscles and improve motility in a gentle manner which minimises bone breakages. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure. One of the biggest problems is that children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children.

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With adaptive equipment such as crutches, splints or grabbers and modifications to the home many individuals with OI can obtain a significant degree of autonomy.

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Surgery can be carried out to insert metal rods along the long bones to improve strength however this does have the side effect of reduced joint mobility. Spinal fusion can be performed to correct scoliosis although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems.

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Infections are treated as and when they occur with the appropriate antibiotics and antiseptics. In severe cases aminohydroxypropylidene bisphosphonate can be administered intravenously to reduce the incidence of bone fracture and increase bone density. Bisphosphonates can also be administered orally in less severe cases to increase bone density however they only significantly improve bone density if used during childhood and adolescence while the bones are still growing.

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