What is Osteogenesis Imperfecta?

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 the brittle bone disease. It occurs equally among males and females and among ethnic groups.

What Causes Osteogenesis Imperfecta?

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.

What Are the Symptoms of Osteogenesis Imperfecta?

Everyone with osteogenesis imperfecta has fragile bones. However, the severity of other symptoms vary, potentially including:

Types of Osteogenesis Imperfecta

There are four primary types of osteogenesis imperfecta:

How is Osteogenesis Imperfecta Diagnosed?

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.

How is Osteogenesis Imperfecta Treated?

There is no cure for osteogenesis imperfecta. However, treatment can relieve symptoms, prevent breakage of bones, and maximize movement.

Treatment may include:

The prognosis for Osteogenesis Imperfecta

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.

Mobility for Those with Osteogenesis Imperfecta

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 to 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; speciality 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.

Solution

The Quantum Edge 3 with industry-first 4.5 mph at iLevel offers the most advanced power chair experience ever. Q6 Power Chair Series, which includes the Edge 3 and Q6 Edge 2.0 power chairs, provide highly adjustable mid-wheel drive power bases. The Q6 Edge 2.0 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 power chair that features automotive-grade suspension with unprecedented comfort and rides quality.

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