Osteogenesis Imperfecta
Osteogenesis imperfecta, also known as “brittle bone disease”, is a genetic disorder characterized by fragile bones that break easily. Osteogenesis imperfecta is caused by a lack of collagen in the bones that affect the body’s ability to make strong bones. Collagen is the major protein of the body’s connective tissue. In dominant Osteogenesis imperfecta, a person has either a lack of type 1 collagen or a poor quality of type 1 collagen, caused by a mutation in one of the type 1 collagen genes. In recessive Osteogenesis imperfecta, mutations in other genes interfere with collagen production. The result in all cases is weak bones that break easily. A person born with this disorder is affected throughout his or her lifetime. The exact amount of people living with Osteogenesis imperfecta cannot be determined because many live undiagnosed. Although it is estimated that twenty - fifty thousand people live with this disease in the United States alone. A person living with Osteogenesis imperfecta can break anywhere from a few to hundreds of breaks in their body. Understanding the way the disability mutates, advancing research, and improving treatments with increase the abilities for patients and help find a cure.
Osteogenesis imperfecta is …show more content…
Common alternatives included Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The current name Osteogenesis imperfecta dates back to 1895. Sever types were once named “Osteogenesis Imperfecta Congenita”, while less severe forms were called "Osteogenesis Imperfecta Tarda". Dating back to 1000 B.C. Osteogenesis imperfecta has been found in remains from an Egyptian mummy. The Swedish doctor Olof Jakob Ekman, began the first studies in his doctoral thesis in 1788; describing symptoms dating back to 1678. In 1897 Martin Benno Schmidt discovered out that the mutation is
Osteogenesis imperfecta, also known as “brittle bone disease”, is a genetic disorder characterized by fragile bones that break easily. Osteogenesis imperfecta is caused by a lack of collagen in the bones that affect the body’s ability to make strong bones. Collagen is the major protein of the body’s connective tissue. In dominant Osteogenesis imperfecta, a person has either a lack of type 1 collagen or a poor quality of type 1 collagen, caused by a mutation in one of the type 1 collagen genes. In recessive Osteogenesis imperfecta, mutations in other genes interfere with collagen production. The result in all cases is weak bones that break easily. A person born with this disorder is affected throughout his or her lifetime. The exact amount of people living with Osteogenesis imperfecta cannot be determined because many live undiagnosed. Although it is estimated that twenty - fifty thousand people live with this disease in the United States alone. A person living with Osteogenesis imperfecta can break anywhere from a few to hundreds of breaks in their body. Understanding the way the disability mutates, advancing research, and improving treatments with increase the abilities for patients and help find a cure.
Osteogenesis imperfecta is …show more content…
Common alternatives included Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The current name Osteogenesis imperfecta dates back to 1895. Sever types were once named “Osteogenesis Imperfecta Congenita”, while less severe forms were called "Osteogenesis Imperfecta Tarda". Dating back to 1000 B.C. Osteogenesis imperfecta has been found in remains from an Egyptian mummy. The Swedish doctor Olof Jakob Ekman, began the first studies in his doctoral thesis in 1788; describing symptoms dating back to 1678. In 1897 Martin Benno Schmidt discovered out that the mutation is