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Signs and Symptoms Osteogenesis Imperfecta has 8 different types and therefore signs and symptoms vary from case to case, however there are some common sypmtoms.
 * Brittle Bones
 * Muscle Weakness
 * Hearing Loss
 * Fatigue
 * Loose joints
 * curved bones
 * scoliosis
 * blue sclera
 * Dentinogenesis Imperfecta
 * Barrel Chest
 * Triangular shaped face

Causes Osteogenesis Imperfecta is caused by a genetic mutation. Osteogenesis Imperfecta can be inherited or be a new mutation in the womb. About 35% of OI patients have no family history of OI.

Most cases of Osteogenesis Imperfecta is caused by mutations to the dominant mutation to type 1 collagen (COL1A1 or COL1A2) genes. The rest are caused by mutations to cartilage-associated protein (CRTAP) gene or the LEPRE1 gene.

Diagnosis Osteogenesis Imperfecta is diagnosed by a doctor. A doctor who is familiar with OI will normally diagnose however sometimes there is uncertainty about a diagnosis. In this case genetic testing, collagen testing, or DNA analysis can confirm or disconfirm a diagnosis.

Prognosis In most forms of Osteogenesis Imperfecta life expectancy is not affected, however in more severe cases it can be. In the most severe cases the patient will die at birth or in infancy. The most common form of death from OI is caused by respiratory failure.

Osteogenesis Imperfecta can be managed and other than the most common symptoms like frequently broken bones most people with OI can live normal lives.

Social Impact Most people with Osteogenesis Imperfecta live normal lives. Go to school, have families, and are active members of their community. However since every case of OI is different the impact it has can vary as well. The first difficulty with having Osteogenesis Imperfecta is exclusion. Most people with OI cannot play sports or physical activities that lead to increased chance of fracture. Many children with OI do not take Physical Education class or are in a separate one to reduce risk of fracture.

A significant amount of people with Osteogenesis Imperfecta are wheelchair bound, or use some other mobility aid. These people face the stigma of being in a wheelchair or being handicap. These stigmas are mostly derived from ignorance about the disorder and handicap people in general.

Education about Osteogenesis Imperfecta is a large part of the life of someone with OI. Explaining the disability to friends and colleagues can be taxing and frustrating sometimes which can lead to social anxiety or reclusive behavior.

References