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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 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.

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What Are the Symptoms of Osteogenesis Imperfecta?

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

  • bone deformities
  • multiple broken bones
  • loose joints
  • weak teeth
  • blue sclera, or a bluish color in the white of the eye
  • bowed legs and arms
  • kyphosis, or an abnormal outward curve of the upper spine
  • scoliosis, or an abnormal lateral curve of the spine
  • early hearing loss
  • respiratory problems
  • heart defects

Types of Osteogenesis Imperfecta

There are four primary types of osteogenesis imperfecta:

  • Type 1 is the mildest and most common form. In this type, the body produces quality collagen, but not enough of it. This results in mildly fragile bones. Children with Type 1 typically have bone fractures due to mild traumas. Such bone fractures are much less common in adults. The teeth may also be affected, resulting in dental cracks and cavities.
  • Type 2 is the most severe form, and it can be life-threatening. In Type 2, the body either doesn’t produce enough collagen or produces collagen that’s poor quality. Type 2 can cause bone deformities. If born with Type 2, one may have a narrowed chest, broken or misshapen ribs, or underdeveloped lungs. Babies with Type 2 can die in the womb or shortly after birth.
  • Type 3 is also a severe form. It causes bones to break easily. With Type 3, the child’s body produces enough collagen but it’s poor quality. The child’s bones can begin to break before birth. Bone deformities are common and may get worse as the child gets older.
  • Type 4 is the most variable form because its symptoms range from mild to severe. As with Type 3, the body produces enough collagen, but the quality is poor. Children with Type 4 are typically born with bowed legs, although the bowing tends to lessen with age.

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:

  • Splints and casts for broken bones
  • Braces for weak legs, ankles, knees, and wrists
  • Physical therapy to strengthen the body and improve movement
  • Medicine to make the bones stronger
  • Surgery to implant rods in the arms or legs
  • Special dental work, such as crowns, for brittle teeth

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 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.

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About Quantum Rehab

Quantum Rehab® was born out of the desire to delight customers with the most advanced, consumer-inspired complex rehab power wheelchairs and related technologies possible.

At Quantum, consumer needs and wishes are the driving force. We’re dedicated to not just meeting medical and clinical needs, but also quality-of-life needs. From the most advanced power seating for pressure management to USB ports, Bluetooth and fender lights, no consumer need is overlooked.


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