Osteogenesis imperfecta (OI, or brittle bones disease) is a group of genetic disorders that mainly affect the bones.
The term “osteogenesis imperfect” means imperfect bone formation.
People with this condition have bones that break easily, often from mild trauma or without apparent cause. Multiple fractures are common and can occur even before birth in severe cases.
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 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. 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 varies, 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 analyse the structure of a child’s collagen.
In some cases, doctors may want to do a skin punch biopsy. The doctor will use a sharp, hollow tube to remove a small tissue sample during this biopsy.
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 imperfecta varies based on the type.
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 powerchairs, emphasizes mobility technologies specific to the needs of those with osteogenesis imperfecta.
Quantum powerchairs 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 powerchairs feature the latest advanced technologies to increase the independence of those living with osteogenesis imperfecta.
iLevel seat elevation technology allows users to operate the powerchair seated or standing.
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.
For those with osteogenesis imperfecta, Quantum powerchairs are designed to provide optimal medical comfort and maximum independence.
The Quantum Edge 3 with industry-first 4.5 mph at iLevel offers the most advanced powerchair experience.
Q6 Powerchair series, which includes the Edge 3 and Q6 Edge 2 powerchairs, provide highly adjustable mid-wheel drive power bases.
The Q6 Edge 2 all accept our optional iLevel technology, which offers up to 12 inches of lift at 4.5 mph.
The 4Front is a quiet, more responsive front-wheel drive powerchair that features automotive-grade suspension with unprecedented comfort and rides quality.
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