Osteogenesis imperfecta is one of the utmost concerns faced within the medical field. It is important to know that there isn't any cure for this disease, otherwise known as the brittle bone disease. However, you can learn to stay healthy, and learn to be happy living with the disease.
It is mainly caused in an autosomal dominant manner, and it can also be caused as a result of mutations of proteins namely; COL1A1 and COL1A2. These proteins are encoded by genes of the same name. Both COL1A1 and COL1A2 are major components of collagens, the most abundant proteins found in Mammals.
The defective genes that result from osteogenesis imperfecta, affect the production of collagens by the human body, collagens are proteins that strengthen the bone. Without abundant collagens, the bones become weak and can easily break.
Autosomal dominant simply implies that children with OI, probably inherited the disease from one of their parents. However, in recent years, there have been signs of autosomal recessive, which means both parents are both with the disease.
What are the symptoms shown by people with Osteogenesis imperfecta?
• Blue tinge in the sclerae(white parts) of the eye.
• Loss of hearing.
• Shorten heights.
• Loosen joints.
It's important to know that osteogenesis imperfecta type I is the least severe and type II is the most severe.
If you are an individual with OI, I love you so much. It isn't the end for you, there are ways you can stay healthy and live a comfortable life. Try exercising, avoid smoking, no smoking at all. It can get to a stage where a metal rod is been inserted into the bone to give strength.
I hope with this, you gain a little insight into the world of osteogenesis imperfecta. Thank you.
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