Essay On Osteogenesis Imperfecta
Background
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic mutation. I chose Osteogenesis Imperfecta because I wanted to inform the people about the seriousness of this disease. People with this disease have weak bones due to a mutation affecting the collagen in the body. This causes people to have fragile bones, which will fracture easily. People may also be very short because of their weak bones. Types of this condition can be mild, it can also be very severe. This is a condition that needs to be diagnosed by a doctor before someone is known to have it. It has no cure, however, treatments are available for those affected. In the United States, about 20,000 people have been diagnosed with Osteogenesis Imperfecta. In addition, this disease affects many people in the United States, and can be very severe for some people.
What is the cause of this condition?
Osteogenesis Imperfecta is a result of a genetic mutation. In most cases it is caused by a single dominant mutation in either …show more content…
The first major sign that someone could have Osteogenesis Imperfecta is fragile bones, leading to easy fractures of the bones. The most common and mildest form of Osteogenesis Imperfecta is type I. Fractures are most likely to occur in type I patients before they hit puberty. Although it is rare, people may have brittle teeth or hearing loss. There is a likely possibility of light bruising to also occur in type I cases. Type III is the worst and most severe case. It results in internal symptoms of many fractures, severe bone deformities, blue or grey sclera, sunken chest, hearing loss, brittle teeth, and a curving spine. External symptoms are a triangular face, and short height. These symptoms often lead to the child being in a wheelchair for the rest of their life. Furthermore, symptoms of Osteogenesis Imperfecta are dependent on the type the patient is diagnosed
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic mutation. I chose Osteogenesis Imperfecta because I wanted to inform the people about the seriousness of this disease. People with this disease have weak bones due to a mutation affecting the collagen in the body. This causes people to have fragile bones, which will fracture easily. People may also be very short because of their weak bones. Types of this condition can be mild, it can also be very severe. This is a condition that needs to be diagnosed by a doctor before someone is known to have it. It has no cure, however, treatments are available for those affected. In the United States, about 20,000 people have been diagnosed with Osteogenesis Imperfecta. In addition, this disease affects many people in the United States, and can be very severe for some people.
What is the cause of this condition?
Osteogenesis Imperfecta is a result of a genetic mutation. In most cases it is caused by a single dominant mutation in either …show more content…
The first major sign that someone could have Osteogenesis Imperfecta is fragile bones, leading to easy fractures of the bones. The most common and mildest form of Osteogenesis Imperfecta is type I. Fractures are most likely to occur in type I patients before they hit puberty. Although it is rare, people may have brittle teeth or hearing loss. There is a likely possibility of light bruising to also occur in type I cases. Type III is the worst and most severe case. It results in internal symptoms of many fractures, severe bone deformities, blue or grey sclera, sunken chest, hearing loss, brittle teeth, and a curving spine. External symptoms are a triangular face, and short height. These symptoms often lead to the child being in a wheelchair for the rest of their life. Furthermore, symptoms of Osteogenesis Imperfecta are dependent on the type the patient is diagnosed