Q What is Osteogenesis Imperfecta (OI)?
A Osteogenesis Imperfecta (OI) is a genetic condition characterised by bones that break easily, often from little or no apparent cause. The condition can vary quite drastically from person to person so a classification system has been identified to describe the different types of OI which is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
Q What causes the condition?
A OI is caused by a genetic mutation that affects the body’s production of collagen, which can be found throughout the body, especially in a person’s bones and other tissues
Q What are the symptoms?
A As well as frequent fractured bones, people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature amongst other medical problems.
Q Does OI only affect the bones?
A Though fragile bones are the hallmark of OI, other medical problems, including loose joints, early hearing loss, brittle teeth, respiratory problems and easy bruising are also part of the condition
Q Does OI only affect Children?
A OI is a genetic condition that is present throughout a person’s lifetime. The frequency of fractures may decrease after puberty, when growth stops. Later, it may increase again in women with the onset of menopause and in men due to age-related changes in their endocrine system
Q Is OI infections or contagious?
A No, you cannot “catch” OI from a person who has the condition
Q How common is OI?
A It is estimated that 1 in 15,000 in the UK have OI
Q Is OI hereditary?
A Yes, genetic conditions such as OI are passed on from parents to children and this can occur in a number of ways, for instance, just one parent may pass on a defective copy of the gene or, in some cases, both parents. As we all have two copies of each gene with each parent passing one copy each to the new child there are instances where the condition is not passed on
Q Can people at risk of passing on the condition be tested?
A Yes, people with OI or with known OI in their family can seek genetic counselling to discuss the chances of the condition being passed on to any children