Osteogenesis imperfecta (OI, or brittle bones disease) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. Additional complications can involve hearing loss, heart failure, spine issues, and deformities. Osteogenesis imperfecta can sometimes be life-threatening if it occurs in babies either before or shortly after birth. Approximately one person in 20,000 will develop brittle bone disease. It occurs equally among males and females and among ethnic groups.
Osteogenesis imperfecta is caused by an abnormality in the gene that produces Type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation or change can cause it.
Everyone with osteogenesis imperfecta has fragile bones. However, the severity of other symptoms vary, potentially including:
There are four primary types of osteogenesis imperfecta:
Osteogenesis imperfecta is diagnosed by taking X-rays. X-rays allow doctors to see current and past broken bones. They also make it easier to view defects in the bones. Lab tests may be used to analyze the structure of a child’s collagen. In some cases, doctors may want to do a skin punch biopsy. During this biopsy, the doctor will use a sharp, hollow tube to remove a small sample of tissue. Genetic testing can be done to trace the source of any defective genes.
There is no cure for osteogenesis imperfecta. However, treatment can relieve symptoms, prevent breakage of bones, and maximize movement.
Treatment may include:
The long-term prognosis for those with osteogenesis imperfect varies based on the Type. Type 1 lives a typical lifespan, with few medical issues. Type 2 is often fatal before or shortly after birth. Type 3 can result in deformities, health issues, and a shorter lifespan. Type 4 may require such mobility aides as crutches, but lifespan is typical. Most with osteogenesis imperfecta live socio-economic lives on par with the general population.
For those with forms of osteogenesis imperfecta with mobility needs, a specialized power wheelchair, including smooth-riding suspension, is needed. Quantum Rehab®, the global leader in individualized power chairs, puts an emphasis on mobility technologies specific toward the needs of those with osteogenesis imperfecta.
Quantum Power Chairs incorporate soft ride suspension to reduce pain from bumps and jarring; power-adjustable seating for user repositioning and comfort; specialty drive controls, including those requiring minimal hand strength; and, a highly-adaptable design to meet an individual’s current and future needs.
Quantum Power Chairs feature the latest advanced technologies to increase the independence of those living with osteogenesis imperfecta. iLevel seat elevation technology allows a user to operate the power chair at seated or standing height. Bluetooth® is also integrated into Quantum’s Q-Logic 3 electronics, so those with osteogenesis imperfecta can operate much of their environment with the power chair drive control, itself.
For those with osteogenesis imperfecta, Quantum Power Chairs are designed to provide optimal medical comfort and maximum independence. Please click here for more information on Quantum Power Chair solutions for those living with osteogenesis imperfecta.
The Bluetooth® word mark and logos are registered trademarks owned by Bluetooth SIG, Inc. and any use of such marks by Quantum Rehab is under license. Other trademarks and trade names are those of their respective owners.