Osteogenesis Imperfecta Research Paper

Osteogenesis Imperfecta (OI) is a bone disease that is also known as brittle bone disease. It is a genetic disorder that can affect extra skeletal tissues, teeth, and heart valves. Mostly though, this disease affects bones and muscles. The bones become very fragile and very breakable as well as the muscles become very weak. All of these things happen as a result of one out of two genes that carry the instructions for type one collagen, this collagen is what carries these deformities. These genes are a major part of a person’s body, they are a part of the protein in the bone and the skin. This is why a person’s bones and muscles are so affected by this disease. There are several different types of OI. Type I is the least severe form. Type
Usually children who's bones break easily are suspected to have OI and also if you see the blue tints in their eyes. Also a skin punch biopsy may be done for an exact diagnosis and also family members may be given a DNA blood test. If there is a family history of OI, chorionic villus sampling may be done during pregnancy to determine if the baby has the condition. CVS is a prenatal test a pregnant woman can get to see if her baby has any defects. However, because so many different mutations can cause OI, some forms cannot be diagnosed with a genetic test. The severe form of type II osteogenesis imperfecta can be seen on ultrasound when the fetus is as young as 16
Physical therapy can help strengthen your muscles as much as they will allow and trying to control symptoms is the best thing that can be done for this disease. Doctors try and make sure OI victims have as much mobility as they can independently and that they live the best life they possibly can. Excising regularly and strengthening your lungs, heart, and muscles is very important a long with eating healthy and maintaining a healthy weight. Another step that can be taken to help OI is called rodding. Rodding is when surgeons places rods with along side your long bones to strengthen them and to also to prevent/correct any deformities. Many medications are being explored to see if they can help OI. Some of these are growth horemones treatments, treatment with intravenous and oral drugs called bisphosphonates, an injected drug called teriparatide (for adults only) and gene