Osteogenesis Imperfecta: Causes, Symptoms and Treatment

Osteogenesis imperfecta is a genetic disorder that causes harm to the bones. It causes the bones to break from little or no apparent trauma. The disease results in a weak or brittle skeletal system, the condition of which can affect quality of life and basic function. It is characterized by fragile and easily broken bones which are responsible for other health problems. The severity ranges over 19 main types, being either inconvenient or life-threatening. However, it has 4 main types, with Type I, II, III and IV being the most common, with the symptoms varying over the different types. The disease causes a variety of different problems regardless of its severity and can affect all genetic groups with equal frequency, occurring in 1 in 20,000 individuals. OI has a wide variety of causes and therefore a large possibility of treatments. Caused by a genetic defect to the COL1A1 and COL1A2 gene, gene therapy and other bone cycle altering treatments are likely therapy for the currently uncurable disease.