brittle bone disease的意思|示意

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Brittle bone disease, also known as osteogenesis imperfecta, is an inherited condition caused by a genetic defect in Type 1 collagen, a connective tissue that forms bone. This defect weakens the bones and makes them prone to fractures even after light trauma. Its symptoms also include blue sclerae (whiteness in the eye), fragile teeth, and low muscle mass. The severity of the disease is variable, ranging from mild to life-threatening.

Brittle bone disease can be diagnosed through a physical examination, imaging studies, and genetic testing. Treatment includes medications to reduce pain, physical and occupational therapy, braces, wheelchairs, and surgery depending on the severity of the disease. In extreme cases, bone marrow or stem cell transplantation may be recommended.

It is important to note that prognosis is usually good and most affected individuals can lead long, productive lives. A healthy diet, exercise, and proper management of the disease will help to reduce the complications and improve quality of life.