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Osteopetrosis is an inherited condition that may be a recessive or dominant trait in the affected people. The condition is characterized by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. No major symptoms are evident in many people but they may experience bone fractures from trivial injuries. The other symptoms include low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.
HOW IS OSTEOPETROSIS DIAGNOSED?
The bones in people with osteopetrosis appear unusually dense and chalky white on x rays. Other tests include hearing and vision tests, blood tests, computerized axial tomography (CAT) scans, and magnetic resonance imaging (MRI).
HOW IS OSTEOPETROSIS TREATED?
Treatment is supportive and based on symptoms. Good nutrition and a physically active lifestyle is essential for better management of this condition.
DID YOU KNOW?
In 2000, the drug Interferon Gamma-1b (Actimmune) was approved by the U.S. Food and Drug Administration to halt the progression of osteopetrosis. The drug delays disease progression in affected individuals.