Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic bone disorder present at birth. About 25,000 to 50,000 people in the country have this condition. Children born with OI may have bones that are soft and fracture easily, those that are not properly formed, and other related problems. There are about eight types of the disease, based on the type of inheritance and signs and symptoms.
Symptoms
The symptoms of osteogenesis imperfect usually differ within and between types. These symptoms may also look like those that occur in other health conditions. Therefore, one should always consult an expert who may diagnose and identify the most likely cause. A few symptoms of OI include:
- Bones that break easily
- Deformities in the bones, such as bowing of the legs
- A barrel-shaped chest
- Discoloration of the sclera (white layer of the eye), which may turn blue or gray in color
- A curved spine
- Loose joints in the body
- Weakness in several muscles
- Skin that may bruise easily
- The loss of hearing in early adulthood
- Soft, discolored teeth
Causes
Experts believe that osteogenesis imperfecta is passed through the genes, and each type is passed on in its way. Some genes might be inherited from one parent, while others may come from both parents. It may also be inherited from an unexplained change, such as the spontaneous mutation of a gene. Most infants with the disease have a defect of one of two genes responsible for forming collagen, a primary part of connective tissue responsible for connecting and supporting the whole body, including bones. Therefore, a mutation might disrupt the production of this property, which can lead to weakened bones.
Treatment options
The primary goal of treatment for osteogenesis imperfecta is to prevent fractures and deformities with the help of rodding, dental procedures, physical therapy and assistive devices, bracing, and splinting. One should also remember that an expert may recommend certain prescriptions to treat OI. Multiple studies are being conducted to create more advanced remedies to manage various types of osteogenesis imperfecta.
Some studies focus on the effects of prescriptions in young patients with OI Types I, II, or IV. Experts want to determine if these remedies could reduce the number of fractures a patient with the disorder experiences. These studies also focus on children of various age groups, such as those over two. The studies are available for individuals to sign up for.
There is also an eligibility criteria to sign up for these programs that can be found online. Since individuals give their valuable time towards such projects, they may also receive support for travel costs for visits to healthcare establishments and compensation. It is recommended that individuals willing to participate in such programs speak with a healthcare professional before signing up. Participating in these programs might be an ideal method to improve the current treatments available for osteogenesis imperfecta.
