Osteogenesis Imperfecta, or OI, is a genetic disorder that affects the bones. Osteogenesis imperfecta is also known as brittle bone disease, is a genetic disorder that results in fragile bones. People with osteogenesis imperfecta are born with bones that are abnormally fragile and can break easily. There is no cure for osteogenesis imperfecta, but treatments can help improve bone strength and prevent fractures.
How It Affects Children?
OI is usually diagnosed in infancy or childhood, after a bone fracture occurs. A doctor may order a bone density test, X-rays, or a genetic test to confirm the diagnosis.
People with OI have bones that are brittle and break easily. OI can be mild, moderate, or severe, depending on how much collagen is affected. There are four types of OI:
Type 1 happens to be the most common & the mildest form of Osteogenesis Imperfecta. People with Type I OI have some bone fragility, but usually don’t have any deformities.
Type 2 form of OI is way more severe than the first one. People with Type II OI have bones that break easily and often have deformities.
Type 3 form of Osteogenesis Imperfecta problem happens to be the most severe one. People with Type III OI have bones that break easily and often have deformities. They may also have short stature, scoliosis, and joint contractures.
Type 4 form of OI is a much milder type. People with Type IV OI have bones that are less brittle than those with other types of OI, but may still have some bone fragility.
What Causes It in a Child?
OI is caused by a mutation in the COL1A1 or COL1A2 gene. These genes provide the instructions for making collagen, a protein that gives bones their strength. A mutation in either of these genes results in bones that are weaker and more fragile.
The severity of any symptoms being experienced may vary from patient to patient. Some people with osteogenesis imperfecta have only a few fractures, while others may have hundreds. The most common symptom is bone fractures.
People with osteogenesis imperfecta may also have the following:
Lingering pain from previous fractures
There is no cure for OI, but there are treatments that can help improve bone strength, prevent fractures, and manage the symptoms better. Such sort of treatment options are explained below:
Bisphosphonates. These medications can help reduce the risk of fractures and improve bone density.
Pain medications. These can help relieve pain from fractures and other symptoms.
Physical therapy. This therapy can aid in improving muscle strength as well as body’s flexibility.
Surgery. In some cases, surgery may be needed to correct bone deformities or stabilize the spine.
Contact 1Health Medical Center for the Treatment of Osteogenesis Imperfecta
If you are looking for a medical center that specializes in the treatment of osteogenesis imperfecta, look no further than 1Health Medical Center. Our team of experts is dedicated to providing the best possible care for our patients, and we are equipped to handle even the most complex cases. Whether you are seeking treatment for yourself or a loved one, we will be there to help every step of the way.