Osteogenesis Imperfecta Bone

Osteo agentsis Imperfecta BoneOsteogenesis Imperfecta or more commonplacely known as Brittle Bone Disease, is acondition causing extremely fragile bones and is known to be a congenital disease. This means you are born with it. It is caused by a defect in the gene that produces type I collagen which is an important building block of bone. Most causes of Osteogenesis Imperfecta are inherited from a parent caring the gene . Some cases are the declaration of new genetic mutations. People with Osteogenesis Imperfecta are usu eithery below average hight. Osteogenesis Imperfecta does not seem to occur in any certain race, it effects all races male and or female. A person with Osteogenesis Imperfecta has a 50 per cent chance of passing on the gene and the disease to there offspring.The symptoms of Osteogenesis Imperfecta are as followsType I which accounts for 60 per cent of all casesMost common and mildest type of Osteogenesis ImperfectaBones predisposed to fractures. Most occurring befo re pubertyNormal to near-normal toploose joints with low muscleman toneBone deformity absent or minimalSpinal bendCollagen structure is normal, but the amount is slight than normalTriangular shaped faceSclera (whites of the eyes) usually have a blue, grey or purple tint to themBrittle odontiasis hearing lossThe increase liability to bruising (thought to be due to the defective collagen)Hernias are more common in people with Osteogenesis ImperfectaExcessive sweating or intolerance of heat are common complaints, the cause is unknownType IIMost sever formDeath occurring shortly after birth, very much due to respiratory problemsSmall stature with underdeveloped lungsCollagen is improperly formedNumerous fractures Severe bone deformitiesType IIIBones fracture easyFractures often present at birthShort statureSclera (whites of eyes) to be a blue, grey, or purple tintLoose joints Poor muscle development in arms and legsTriangular shaped faceBarrel-shaped rib cageSpinal curvatureBone deformity, often severeBrittle teethHearing lossRespiratory problemsCollagen is improperly formedThe increase liability to bruising (thought to be due to the defective collagen)Hernias are more common in people with Osteogenesis ImperfectaExcessive sweating or intolerance of heat are common complaints, the cause is unknownType IVBetween Type I and Type III in severityBones fracture easily, usually before pubertyShorter than average statureSclera are white or near white, normal in colorMild to moderate bone deformityBarrel-shaped rib cageTriangular shaped faceSpinal curvatureBrittle teethHearing lossCollagen is improperly formed The increase liability to bruising (thought to be due to the defective collagen)Hernias are more common in people with Osteogenesis ImperfectaExcessive sweating or intolerance of heat are common complaints, the cause is unknownThe diagnoses of Osteogenesis Imperfecta.Osteogenesis Imperfecta is diagnosed a few different ways. In most cases the diagnosis is mad e from the pattern of fractures. In severely affected people X-rays may show characteristics abnormalities. In the USA two specialized tests are sometimes used for the diagnosis of Osteogenesis Imperfecta. One involves taking a small piece of the skin, culturing the cells and chemically examining the collagen produced. The other uses a blood sample and searches for mutations of the genes coding for the collagen of bone. neither tests are more than 85 per cent accurate in identifying cases of Osteogenesis Imperfecta. Chronic Villus Sampling maybe done during pregnancy to determine if the fetus has the condition. However, because so many a(prenominal) different mutations lav cause Osteogenesis Imperfecta, some forms can not be diagnosed with a genetic test. Often the severe form Type II can be detected on an ultra sound when the fetus is as young as sixteen weeks old.The treatment of Osteogenesis Imperfecta.There is no cure still for this disease however curtain therapies can reduc e pain and complications due to this disease. Bisphosphonates are drugs that have been used to treat Osteoporosis. They can increase the strength and the gracelessness of bone in people with Osteogenesis Imperfecta . They have also been shown to highly reduce fracture rate. Swimming and low impact exercises help maintain the strength of the bones. In more severe causes surgery may be used to place metal rods into long bone in the leg to help reduce the try of any further fractures.