alexa association francophone belge de l'ostogense imparfaite

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association francophone belge de l'ostogense imparfaite

The term of osteogenesis imperfecta (OI) is a set of genetic connective tissue diseases whose main characteristic is bone frailty. OI manifests itself differently and to varying degrees in each person. Small size, bone deformities, deafness, respiratory and dental problems are all consequential events in bone fragility which IOs people can be brought to face. The frequency of OI is estimated at 1/10 000 (but varies depending on the type) and an affected person has a 50% risk of transmitting the disease to each design. OI is a rare disease and autosomal dominant. OI is caused in 90% of cases a lack of a protein called "collagen I," which is mainly concentrated in the bones and teeth. Unlike conveyed ideas, an OI person does not lack of calcium but it is the latter who cannot settle in the bones because the bone structure is defective or in quantities too small. However, it must ensure that the supply is not deficient in calcium. In the remaining cases, the cause is still unknown although one can assume a deficiency in proteins that interact with collagen I. Until recently, no drug had really proved really effective. The doctor could only repair fractures or surgically intervene to correct skeletal deformities. Late 1990s, bisphosphonates have proven very promising and have since been recognized as the treatment for osteogenesis imperfecta. Yet it proved over the years that if increased bone density in treated individuals, the impact on the number of fractures was negligible. In Belgium, the research may have taken place with the support of AFBOI. And the results are more than promising. It will take one or two years for testing on those affected. The asset is to be avoided whenever possible as it weakens even more the skeleton. As such, physical therapy is highly recommended and should ideally be part of the life of a person OI, and, in synergy with other treatments.

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