Osteogenesis Imperfecta Bone

Osteogenesis Imperfecta off-whiteOsteogenesis Imperfecta or much jetly cognise as breakable tog out Disease, is acondition causing extremely fragile swots and is known to be a congenital disease. This means you be born with it. It is caused by a defect in the gene that produces type I collagen which is an burning(prenominal) building block of bone. Most causes of Osteogenesis Imperfecta argon inherited from a conjure up caring the gene . Some cases are the result of new genetic mutations. People with Osteogenesis Imperfecta are usually below average hight. Osteogenesis Imperfecta does not appear to occur in any certain race, it effects all races manlike and or female. A person with Osteogenesis Imperfecta has a 50 per cent come up 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 dies . Most occurring before puberty everyday to near-normal summitloose joints with low muscleman toneBone fault absent or minimalSpinal curvatureCollagen structure is normal, except the amount is less than normalTriangular shaped facesclera (whites of the eyes) usually subscribe a blue, grey or purple disturb to themBrittle teethingHearing lossThe extend liability to wound (thought to be due to the defective collagen)Hernias are more common in people with Osteogenesis ImperfectaExcessive sweating or fanaticism of heat are common complaints, the cause is unknownType IIMost disperse formDeath occurring shortly after birth, lots due to respiratory problemsSmall stature with underdeveloped lungsCollagen is improperly formedNumerous fractures trying bone deformitiesType IIIBones fracture easilyFractures 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-sha ped costa hencoopSpinal curvatureBone deformity, often puckishBrittle teethHearing lossRespiratory problemsCollagen is improperly formedThe increase liability to injure (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 crueltyBones 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 made from the pattern of fractures. In severely alter people X-rays may show characteristics abnormalities. In the USA two narrow tests are somewhattimes 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 consume and searches for mutations of the genes coding for the collagen of bone. Neither tests are more than 85 per cent faultless in identifying cases of Osteogenesis Imperfecta. Chronic Villus Sampling maybe done during pregnancy to train if the fetus has the condition. However, because so many different mutations can 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 16 weeks old.The treatment of Osteogenesis Imperfecta.There is no cure yet for this disease save curtain ther apies can slim pain and complications due to this disease. Bisphosphonates are drugs that have been used to treat Osteoporosis. They can increase the strength and the hardness 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 agency metal rods into long bone in the leg to help reduce the risk of any further fractures.