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Osteogenesis Imperfecta

How Is It Diagnosed?

In order to make an osteogenesis imperfecta diagnosis, the doctor will ask a number of questions about a person's medical history (for example, current symptoms and family history of any medical problems). The doctor will also perform a physical exam to look for any signs of the disorder; the doctor may also order certain tests.
Tests used to make a diagnosis can include a collagen biopsy or DNA test. Bone densitometry (also known as a bone density test or bone density scan) will not, by itself, provide a diagnosis. However, when combined with personal and family medical history, findings on physical examination, x-rays, and biochemical testing, a bone densitometry can provide important information to support an osteogenesis imperfecta diagnosis.

Treatment Options for Osteogenesis Imperfecta

There is no cure for osteogenesis imperfecta yet. Therefore, treatment is typically directed toward:
  • Preventing or controlling symptoms
  • Maximizing independent mobility
  • Developing optimal bone mass and muscle strength.
Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with the condition. Use of wheelchairs, braces, and other mobility aids is common, particularly (although not exclusively) among people with more severe types of osteogenesis imperfecta.
To date, no drug or vitamin therapy regimen has been effective as an osteogenesis imperfecta treatment. Researchers who study the disorder continue to make progress with these issues.
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