Osteogenesis Imperfecta Essay

The following will cover the effects, causes and the treatments for the genetic disorder, Osteogenesis Imperfecta. The term Osteogenesis Imperfecta means imperfect bone formation. Also known as brittle bone disease, OI, and Vrolik disease, osteogenesis imperfecta causes people to have weak bones. OI can also affect the body in other ways such as hearing, bone deformities, loose joints, discolored sclera( the whites of your eyes), and spine curvature. The severity of the disease can vary depending on which form of the disease the individual has. There are eight different forms of osteogenesis imperfecta, with type I being the mildest form and type II being the most severe. The symptoms of OI may also vary from person to person even if they
Type VII and VIII are recessive types of OI which do not cause mutations in the type I collagen genes. Instead they occur from mutations in the cartilage-associated protein gene(Type VII) and the prolyl 3-hydroxylase I gene(Type VIII). Recessive forms of OI can have severe and moderate effects. Osteogenesis Imperfecta is a pretty uncommon genetic disorder, only affecting about 6 to 7 people out of 100,000. Types I and IV are the most common, affecting 4 to 5 out of the previously mentioned 6 to 7. OI is usually diagnosed through outward signs, such as bone deformities or discolored sclera, as well as previous family cases, x-rays, and abnormal type I collagen. There is currently no known cure for osteogenesis imperfecta, but it can be treated and steps can be taken to reduce its hinderance on an affected individual's everyday life. Since the main effects that all types of OI have is low bone density, it is heavily recommended that those with the disorder build their bone density. Bone density can be built up through safe exercise, diets, and if required medication. It is important to regularly check up with your physician, to make sure that you are actually building up your bone