Osteogenesis imperfecta, also known as brittle bone disease, is a rare genetic disorder that causes bones to fracture easily. Other symptoms include weak muscles and joints, dental conditions, and skeletal deformities. While there is no permanent cure, treatments such as drugs to increase bone mass, vitamin D supplements, and gene therapy are being studied. With proper management, individuals with mild forms of the disorder can lead normal lives.
Osteogenesis imperfecta is often referred to as Lobstein syndrome, brittle bone disease, or glass bone disease. It is a relatively rare genetic disorder in which the affected individual’s bones fracture or break easily. Symptoms include brittle, 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. Right now researchers are looking for a way to permanently treat the disorder, helping those affected find ways to live productive lives.
Although the primary symptom of osteogenesis imperfecta sufferers is brittle bones that fracture or break easily, there are many other common symptoms that are exhibited by affected individuals. For example, it’s 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 disease, he may also have difficulty breathing. The more severe the disease, the more symptoms and more broken bones the person will experience.
Most cases of osteogenesis imperfecta are discovered when a doctor completes a physical exam. Although symptoms may indicate the disorder, it is difficult to make an accurate diagnosis based on symptoms alone. To make a final decision, a genetic test must be completed. This is usually done through blood or tissue testing. Once the test indicates that the disease is present, steps can be taken to reduce symptoms and limit bone damage.
Scientists are currently looking for new ways to treat osteogenesis imperfecta. For example, some drugs that increase bone mass in affected individuals are helpful in preventing bone fractures. Additionally, increasing vitamin D levels is also thought to help increase bone density. Some researchers are also studying how gene therapy can help people with osteogenesis imperfecta. Additionally, a surgically implanted rod can 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. Indeed, it can often be managed and those affected can lead normal lives. In general, if a person moderates their physical activity and leads a healthy lifestyle, they may break fewer bones. Death is uncommon, but it is possible if the disease is severe.
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