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Osteogenesis imperfecta is also known as brittle bone disease. This is a congenital disorder characterized by bone highly prone to fracture. Those born with osteogenesis imperfecta have defective connective tissue, or are without the ability to make it, due to a type 1 collagen deficiency. There are no less than eight different types of osteogenesis imperfecta, none of which can be cured.
Type I Osteogenesis imperfecta is described as mild, and the condition ranges up to Type VIII, which can be lethal. In Type 1, the following characteristics are prevalent:
- Body produces insufficient quantities of collagen, resulting in easily fractured bones,
- Slight curvature of the spine
- Poor muscle tone
- A slight protrusion of the eyes.
- More severe types result from insufficient quality and/or quantity of collagen.
While there is no definitive test for osteogenesis imperfecta, diagnosis is generally made by bone fractures resulting from little trauma. DNA testing is generally performed in order to confirm diagnosis. Treatments are generally aimed at increasing the individual's overall bone strength, in order to both prevent fracture and allow the person to maintain mobility. Often, metal rods can be surgically inserted in the body's long bones, but many patients with osteogenesis imperfecta must rely on various physical aids, including crutches, wheelchairs and modifications in the home for a better quality of life.