Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture — break — easily, sometimes for no known reason.
Other signs
OI can also cause:
- weak muscles;
- brittle teeth;
- a curved spine;
- hearing loss.
It ranges from mild to severe, and symptoms differ from person to person: someone may have only a few fractures in a lifetime, or several hundred.
The cause
OI is caused by one of several genes not working properly. That affects how the body makes collagen, a protein that helps make bones strong.
Diagnosis
There is no specific test. Doctors diagnose OI from medical and family history, a physical exam, and imaging and lab tests, and may also test collagen (from a skin sample) or genes (from a blood sample).
Treatment
There is no cure, but symptoms can be managed with exercise, pain medicine, physical therapy, wheelchairs, braces and surgery.
Sources
- MedlinePlus, U.S. National Library of Medicine, "Osteogenesis Imperfecta," drawing on the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH). https://medlineplus.gov/osteogenesisimperfecta.html
- Rewritten in hubnx's own words.
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