OI affects people in several ways and may vary from person to person. Even among people with Type I OI in the same family, there may be differences. Below is a list of signs and symptoms common among people with Type I OI. Many people with Type I OI have only some—not all—of these characteristics:
Some people with Type I OI are very mildly affected. They may have only a few fractures. They are of average or even above-average height; are able to walk and run; and have signs of OI that are barely noticeable, such as blue-tinted sclera or loose joints. In fact, some people are so mildly affected that they are not diagnosed until their teen or adult years. In some cases, they are not diagnosed until after they have a child diagnosed with Type I OI.
Other people with Type I OI have more distinct symptoms. They may have several dozen or more fractures; sometimes use a wheelchair, walker, braces, or crutches for mobility; be somewhat smaller than the rest of their family; or require treatments such as rodding surgery.
In most cases, people with Type I OI seem to experience fewer fractures after puberty, when the bones are no longer growing as quickly. Even so, the genetic defect still exists, and adults with Type I OI need to be aware of how the disorder may affect them throughout life. This is especially important for women when they go through menopause and men age 50 and older. Bone density will be lower throughout life in people with OI than in their peers.
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