Osteogenesis imperfecta is often referred to as Lobstein syndrome, brittle bone disease, or glass bone disease. It is a relatively rare genetic disease wherein the affected individual's bones easily fracture or break. Symptoms include fragile, brittle bones; muscle and joint weakness; skeletal deformities; and dental conditions. Depending on the severity of the disorder, it may not be a life threatening disease. At this time researchers are looking for a way to permanently treat the disorder, while helping affected individuals find ways to live productive lives.
Although the primary symptom of someone suffering from osteogenesis imperfecta is brittle bones that easily fracture or break, there are several other common symptoms that are exhibited by affected individuals. For example, it is not uncommon for a person with osteogenesis imperfecta to have weak muscles and joints, brittle teeth, curved bones, hearing loss, and scoliosis. If someone has a more severe form of the diseases, she may even have difficulty breathing. The more severe the disease is, the more symptoms and the more broken bones the person will experience.
Most cases of osteogenesis imperfecta are discovered when a doctor completes a physical examination. Although the symptoms may point to the disorder, it is hard to make an accurate diagnosis based on the symptoms alone. In order to make a final determination, a genetic test must be completed. This is usually done through blood or tissue analysis. Once the analysis indicates that the disease is present, it is possible to move forward to reduce the symptoms and limit damage to the bones.
Scientists are currently looking for new ways to treat osteogenesis imperfecta. For example, some drugs that increase the bone mass in affected individuals are helpful to prevent breaks in the bones. In addition, increasing the levels of vitamin D is also thought to help increase the density of the bones. Some researchers are also studying how gene therapy may help people affected by osteogenesis imperfecta. Also, a surgically implanted rod may help give a person strength and reduce the risk of injury.
Osteogenesis imperfecta is not necessarily life threatening, particularly for those individuals with mild forms of the disorder. In fact, it can often be managed, and those affected can lead normal lives. In general, if a person moderates her physical activity and lives a healthful lifestyle, she may break fewer bones. Death is not common, but it is possible if the disease is severe.