Osteogenesis imperfecta By Carol Lugor

Osteogenesis imperfecta is a disease that causes bones to be weak and therefore break easily. The disease occurs in 6 to 7 per 100,000 people world wide.

OI contains 8 different forms that vary from person to person. The disease doesn't range in particular communities but can range from severe to mild symptoms.

Symptoms include:

Malformed bone, Loose joints, Muscles weaken, Brittle teeth, Curved spine, Breathing difficulties, Barrel shaped rightb cage.

Signs include:

bone fracture, bluish tinge of the white of the eye, bone tissue formation, bow legs, bruising, enlarged head, hearing loss, physical deformity, Scoliosis, short stature, stiffness.

Most cases of OI have autosomal dominant patterns of inheritance, which means one copy of the altered gene in each cell is able to cause the condition.

Osteogenesis imperfecta doesn't have a specific identification of whether it is dominant or recessive, they can either be autosomal recessive or autosomal dominant. A majority of people have inherited OI from an autosomal dominant which means that people who have inherited OI from a recessive gene are rare.

The disease is caused by new sporadic mutation in the COL1A1 or COL1A2 gene. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera).

Diagnosis & Treatments:

Fracture Care: Casting and splinting bones can help heal the bones properly. however, long periods of being unable to move the certain broken body parts can weaken bones and lead to muscle loss and more fractures.

Physical Therapy and Safe Exercise: The purpose for physical therapy are mainly to expand and maintain function and allowing independence for the patient. most program include muscle strengthening and aerobic conditioning.

Surgery: Surgery is mainly needed to repair a broken bone, correct bone deformities or repair tiny bones in the middle ear in order to improve hearing. Many children with OI go through a surgical procedure called rodding. During the procedure, metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. Both non-expandable and expandable rods can be used.

Medications: Bisphosphonate drugs are used to increase bone density in children and adults with moderate and severe OI.

Healthy Lifestyle: People with OI benefit from a healthy lifestyle such as safe exercising and a nutritious diet. Intake of nutrients, such as Vitamin D and calcium is necessary to maintain bone health, but extra doses of nutrients are not recommended.

Maintaining a healthy weight is important since extra weight adds stress to the bones which reduces the ability to move easily. People with OI should avoid smoking, excessive alcohol or caffeine intake and steroid medications, as they all reduce bone density.


People with Type I OI often have to deal with the conflict between their outwardly healthy appearance and their fragility. Concern about strength, stamina, constant hospitalit visits and changes as a person ages also can affect decisions about family life, housing, and careers. Adults with Type I OI recommend developing an effective personal support network.


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