Osteogenesis Imperfecta or commonly known as OI is a rare genetic disorder that is characterized by fragile bones. It is also known as ‘the Brittle Bones Disease’.
Mutation in the genes affects a protein called Type 1 Collagen causing brittle bones. In healthy individuals, Type1 Collagen helps in the strengthening of the bones in the body.
The severity of OI can vary from mild to severe categorized by Type 1 through Type 8.
The milder the condition is, fewer the fractures in the affected person’s life time. In severe cases it can involve hundreds of fractures that can occur without any apparent reason.
The most common clinical features of OI are listed below but are not limited to just these…
1) Blue Sclera (the white part of the eye is bluish)
2) Multiple Bone fractures
3) Muscle weakness
4) Joints laxity
5) Hearing loss
6) Bone deformities
8) Short stature
9) Respiratory problems
10) Brittle teeth/Dentenogenesis Imperfecta
11) Skin that can bruise easily.
Although there is plenty of research, a cure has not been found for OI.
Since it is caused by mutation, there are no symptoms for the onset of OI. However, after onset there are ways of preventing and managing the severe effects of OI in an individual.
Below are a few recommendations commonly followed for a healthier lifestyle with OI.
1) Physical and Occupational therapy
2) Low impact exercises
3) Surgical procedures such as rodding
4) Medication and
5) Lifestyle modification