Diagnosis of Osteogenesis Imperfecta

Doctors may diagnose OI by:

• Asking about family and medical history.
• Completing a physical exam.
• Ordering x-rays and bone density tests.

In addition, doctors can also diagnose OI and identify the type of OI with a genetic blood test that detects the change in the inherited gene. These tests can detect OI in most people who have it. Sometimes, additional genetic testing may be necessary. People who have genetic testing should see a specialist or genetic counselor to help them understand the test results. A negative genetic test does not rule out an OI diagnosis.

Treatment of Osteogenesis Imperfecta

There is no cure for OI. The goal of treatment, depending on the type of OI, is to prevent or control symptoms, increase bone mass and muscle strength, and maximize a person’s ability to be independent. These treatments include:

Physical or Occupational Therapy

People with OI may benefit from physical or occupational therapy, which can help the person:

• Build muscle strength; improve joint movement, mobility, and gross motor skills; and prevent broken bones.
• Learn how to avoid injuries.
• Safely perform activities of daily living.
• Recover from broken bones.

Therapists and doctors also may recommend swimming to condition and build strength. 

Medicines

Although there are no medicines approved by the U.S. Food and Drug Administration to treat OI, your doctor may recommend a therapy approved for a related condition. Your doctor may prescribe:

• Bone strengthening medicines approved to treat other bone diseases can help slow bone loss and reduce the frequency and seriousness of broken bones.
• Pain medicines to treat pain caused by broken bones and chronic bone pain.

In addition, some medicines are currently being studied to help prevent the complications of or to treat OI in adults and children. Talk to your primary care provider or your child’s pediatrician about the using these medicines or participating in studies.

Bone Care

An orthopaedic specialist can treat broken bones with a cast, splint, or brace. Sometimes people need surgery to repair a broken bone.

In addition, doctors perform surgery to support or correct bones that are curved or bowed, including the spine. Many children with OI have rodding surgery, in which a metal rod is placed into a bone. Rodding surgery is performed to support the bone and prevent the bone from breaking. Some of these rods are “telescoping” and can be adjusted to lengthen as a child with OI grows.

Mobility Aids

Using a mobility aid may help people safely perform daily activities and reduce injuries. These aids include:

• Walkers.
• Canes and crutches.
• Braces or prosthetics.
• Wheelchairs.

Oral and Dental Care

Some people with OI have:

• Teeth that easily chip or break.
• Changes in tooth color and shape.
• Tooth decay.
• Small jaw size.
• Incorrect position of teeth.

Regular dental check-ups and care are important to prevent dental symptoms and improve bite, alignment and appearance of teeth. In addition, some people need to see:

• Oral-maxillofacial surgeon, who specializes in oral and jaw surgery.
• Orthodontist, who treats tooth alignment and jaw position.

Hearing

Doctors recommend hearing testing beginning in childhood, with regular testing throughout the person’s life. It’s important to see an audiologist who specializes in caring for people with OI.   Treatment can include:

• Hearing aids, small electronic devices worn outside the ear that make sound louder.
• Cochlear implants, small electronic devices that have two pieces, one outside behind the ear and another under the skin.
• Surgery called stapedectomy, when a surgeon places a prosthetic or artificial device into the middle ear, allowing sound waves to reach the inner ear.

Who Treats Osteogenesis Imperfecta?

People with OI usually require a health care team of several doctors and health care providers. Your health care team may include:

• Primary care physicians, who diagnose and treat adults.
• Pediatricians, who diagnose and treat children.
• Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
• Endocrinologists, who specialize in treating bone disorders.
• Orthopaedists, who treat and perform surgery for bone and joint diseases, and have experience treating people with OI.
• Occupational therapists, who teach how to safely perform activities of daily living.
• Physical therapists, who teach ways to build muscle strength, recover from broken bones, and prevent broken bones.
• Dental providers such as orthodontists and oral-maxillofacial surgeons.