About Brittle Bones - Osteogenesis imperfecta (OI)
Brittle Bones, or Osteogenesis imperfecta (OI), is a genetic disorder characterised by fragile bones that break easily. A person is born with this disorder and is affected throughout his or her life time.
OI is a genetic disorder of collagen, a protein which forms the framework for the bone structure. In OI the collagen may be of poor quality, or there may just not be enough to support the mineral structure of the bones. This makes the bones weak and fragile and results in the bones being liable to fracture at anytime even without trauma.
Each time a bone is broken and set it will heal in a position slightly less than perfect and the same bone may often break repeatedly.
As the composition of collagen in the bone is not correct, even when there are no fractures there will be other problems connected to the condition, such as muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary disease occurs in more severely affected people.
Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is available to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis.
Despite the implications of OI, most adults and children who have OI lead gainful and happy lives. They attend school, have successful careers, raise families and even participate in sports and other recreational activities. Ottobock specialise in helping people with OI achieve maximum quality of life. With our range of specialised mobility products, you too can lead a fulfilling life - anything is possible if you put your mind to it!