Osteogenesis Imperfecta Research Paper

1376 Words 6 Pages
Introduction
Osteogenesis imperfecta describes a group of genetic disorders that are colloquially known as “brittle bone disease” and is estimated to affect around 7 out 100,000 people around the world. As the name suggests osteogenesis imperfecta is characterized by imperfect formation of the bones that leads to frequent fractures or breaks from minor trauma (Rauch et al., 2004). Depending on the severity of symptoms the impact to an affected individual 's life can differ. This paper will supply the necessary information for patients or those with family and loved ones afflicted by osteogenesis imperfecta to manage and understand their condition. Focusing on the four main classifications of osteogenesis imperfecta; the causes, symptoms and
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There are three main avenues of treatment available; nonsurgical management, surgery and drug therapy to increase strength of bones. Nonsurgical management includes physical therapy, rehabilitation, bracing and splinting (Antoniazzi et al., 2000).Therapeutical efforts are aimed towards getting the most out of mobility and other functional capabilities. Treatment strategies should primarily focus on the adoption of compensatory strategies, along with improving joint movement range and muscular strength (Engelbert et al., 1998). The most common surgical option is intramedullary rod positioning within the long bones, metal rods positioned within the bone to improve function (Antoniazzi et al., 2000). Drug therapy can also be effective in treating osteogenesis imperfecta. Most successful is treatment with bisphosphonates during childhood and adolescence. On such drug, disodium pamidronate (APD), was observed to gradually increase bone density within the spine and rest of the body, along with vertebral remodelling, when administered monthly intravenously to children and adolescents (aged 0.6-18 years). Subjects also reported an improvement in pain and mobility with few side effects (Åström 2002). Bisphosphonate treatments are not a completely flawless or flushed out solution and remain in trial stages, however; they do represent a hopeful path to pursue. Presently, medical treatments for osteogenesis imperfecta at best achieve symptomatic improvement. The only way to truly cure the disorder is to destroy the mutated gene or gene product. However, there are some obstacles to such gene based therapy for osteogenesis imperfecta. Osteogenesis imperfecta in its most severe forms results from the presence of abnormal collagen molecule. This means that to cure it, the mutant allele must first be inactivated and then substituted in for its product. Researchers are still

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