Diagnosing Osteogenesis Imperfecta
In order to diagnose osteogenesis imperfecta, 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 osteogenesis imperfecta; the doctor may also order certain tests.
Tests used to diagnose osteogenesis imperfecta 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 of osteogenesis imperfecta. 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
Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with osteogenesis imperfecta. 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 a treatment for this disorder. Researchers who study osteogenesis imperfecta continue to make progress with these issues.
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