Osteogenesis Imperfecta




Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. Osteogenesis imperfecta can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States have osteogenesis imperfecta.

Causes

Osteogenesis imperfecta is caused by a defect in a gene. This happens in one of the genes that control how the body makes type 1 collagen, which helps make bones strong. Most children with OI inherit the faulty gene from a parent. Sometimes the gene that causes osteogenesis imperfecta does not come from a parent. Instead, a change (mutation) in the gene occurs by chance. This happens soon after the child is conceived.



Symptoms

All people with osteogenesis imperfecta have brittle bones. Osteogenesis imperfecta can range from mild to severe and symptoms vary from person to person. Some of the symptoms that people with OI may have are:
  • Deformed bones
  • Short, small body
  • Loose joints
  • Muscle weakness
  • Sclera (white of the eye) that look blue, purple, or gray
  • Triangular face
  • Barrel-shaped rib cage
  • Curved spine
  • Brittle teeth
  • Hearing loss (often starting in 20s or 30s)
  • Breathing problems
  • Type 1 collagen that does not work well
  • Not enough collagen.
Types of Osteogenesis Imperfecta

There are four main types of osteogenesis imperfect.

Type I Osteogenesis Imperfecta.
Type I osteogenesis imperfecta is the most common and the mildest form. People with Type I Osteogenesis Imperfecta are often average height for their family and do not tend to have deformed bones. Their bones may break easily and they may have loose joints and weak muscles.

Type II OI
Type II osteogenesis imperfecta is the most severe form. Babies with Type II OI usually die from breathing problems at birth or during the first few months.

Type III OI
People with Type III osteogenesis imperfecta have bones that break easily. Babies are sometimes born with broken bones. X rays may show bones that broke and healed before birth. Adult height of people with this type of OI is less than 4 feet. People with type III OI tend to have barrel chests and breathing problems.

Type IV OI
Type IV osteogenesis imperfecta is also called moderate OI. People with this type of OI are shorter than average for their age and may have bowing in the long bones of the legs.



Treatment

Although there is no cure for Osteogenesis Imperfecta, symptoms can be managed. Treatments for OI may include:
  • Care for broken bones
  • Care for brittle teeth
  • Pain medication
  • Physical therapy
  • Use of wheelchairs, braces, and other aids
  • Surgery.
One type of surgery is called “rodding.” Metal rods are put inside the long bones to:
  • Strengthen them
  • Fix bone deformity
  • Prevent bone deformity.
A healthy lifestyle also helps people with Osteogenesis Imperfecta. You can help prevent broken bones and maintain your health if you:
  • Exercise (swimming, water therapy, walking)
  • Keep a healthy weight
  • Eat a balanced diet
  • Do not smoke
  • Do not drink a lot of alcohol and caffeine
  • Do not take steroid medicines.


Proper care helps children and adults who have Osteogenesis Imperfecta to:
  • Stay active
  • Make bones more dense
  • Keep muscles strong.


Informations obtained from National Institute of Health.
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