Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that break easily. It is caused by a defect in the production of collagen, a protein that provides strength and structure to bones. Individuals with OI often experience frequent fractures, even with minimal trauma or no apparent cause.
Signs and symptoms of OI can vary widely, ranging from mild to severe. Fractures may occur during childbirth or in early childhood, and affected individuals may have short stature, weak muscles, and joint laxity. Other complications can include hearing loss, respiratory problems, and skeletal deformities.
Diagnosis of OI involves a physical examination, medical history review, and imaging tests such as X-rays or bone density scans. Genetic testing may also be conducted to identify specific gene mutations associated with OI.
Treatment for OI focuses on managing symptoms and preventing fractures. This may involve physical therapy to improve muscle strength and mobility, assistive devices like braces or wheelchairs, and medications to increase bone density. In severe cases, surgical interventions may be necessary.
Living with OI requires ongoing medical care and support. Individuals with OI can lead fulfilling lives with appropriate management and support from healthcare professionals, family, and community.