Osteogenesis Imperfecta Essay

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In the modern society with high technologies and immense amount of medical knowledge, various diseases’ have absolute treatments and diagnosis. Most of the time, patients would not have to worry about whether the disease will harm them again after their treatments. Unfortunately, some diseases can not be treated. The bone disease, osteogenesis imperfecta, is one of those rare, genetic disease that scientists had not found an absolute treatment that can eradicate it and ease the patient’s difficulties. Osteogenesis imperfecta (OI) is commonly known as the brittle bone disease. Unlike most ailment, osteogenesis imperfecta is a rare disease that caused by genetic mutation. This certain disease cause the bones to be extremely fragile and fracture easily with little or no physical force, thus the common name “brittle bone.” Besides weak and fragile bones, people who have osteogenesis imperfecta have weak muscles and bone deformities. Osteogenesis imperfecta is not a simple genetic disease that have few symptoms; it have eight different types in which each type have different signs and symptoms. Type I, II, III, and IV are the most common type of osteogenesis imperfecta, the other four types, according to the website …show more content…

Based on the website www.physio-pedia.com, the diagnosis starts with physical exams and x-rays. The physicians would examine the patient’s x-rays and search for any kind of bone deformities or any irregular shaped bones. Besides the common x-rays and physical exams, osteogenesis imperfecta could also be found through a “skin biopsy, DNA testing, and ultrasound imaging before the child is born.” Collagen tests are also a part of the diagnostic because the random genetic mutation occurs in the COL1A1 and COL1A2. Depends on what type of osteogenesis imperfecta the patient have, the diagnostic could take a very long

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