Essay On Osteogenesis Imperfecta

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The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
Osteogenesis imperfecta is organized into four common types, although more exist, depending on the symptoms. These disorders range in …show more content…

As well, they experience delays in motor development. As individual with types I and III OI age, they often develop chronic pain, breathing problems, and joint problems. Those with Type III may also develop scoliosis. Furthermore, adults may experience osteoporosis, respiratory issues, hearing loss, and vision loss. On the other hand, patients with Type III OI, experience fractures even before birth, and their fractures continue throughout their life, past puberty. They experience the same symptoms as those with Types I and IV, only worse and often cannot walk without assistance. Many patients with Type III OI experience severe respiratory problems throughout their lives and many die in childhood or adulthood due to the issues. Likewise, infants with Type II OI experience fractures before birth and experience severe respiratory issues. However, their respiratory issues are much worse and they often die in the womb or shortly after

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