Symptoms of OI

The Symptoms of OI vary quite significantly according to the type of OI, so it is very difficult to predict the type of symptoms or complications that a person will have. Common Symptoms are: Bones that fracture easily, short stature, hearing loss, discoloured, brittle teeth, blue sclera (blue tinge in the whites of eyes), skeletal deformities, scoliosis, respiratory difficulties, weak muscles, excessive sweating, constipation, tendency to bruise easily, loose joints and ligaments, and a high pitched voice. However people that suffer OI very rarely have all of these symptoms, that the severity can vary on a large scale between individuals.

Osteogenesis Imperfecta
Osteogenesis Imperfecta, also known as brittle bone disease, or lobsetin disease, is a genetic bone disease. It is a congenital disease, meaning that it is present at birth; it is mostly caused by a defect in the gene that produces type 1 collagen, which is an important building block of bone. This results in fragile bones that are prone to breaking easily. Most cases of OI are inherited from the parents however some cases have been result of genetic mutations. A person with OI has a 50% chance of passing it on to their children

Osteogenesis Imperfecta

By Joel Chan

Types Of Osteogenesis Imperfecta

There are 8 types of OI; with type 1 being the most common and type 8 being the least common, and symptoms vary from person to person. Type 1 is mild and is the most common, the symptoms are bones that fracture easily, slight spinal curvature, loose joints, poor muscle tone, discolouration of the sclera (giving it a bluish gray tinge), early loss of hearing in some children, and a slight protrusion of the eyes. As the types increase, the symptoms become worse as well as the rarity. With type 2, the collagen is not of sufficient quality or quantity and most cases die within the first year due to respiratory failure, in type 3, the collagen is improperly formed and is defective, and have the same symptoms as type 1 but more severe, with type 4, the bones fracture easily, especially before puberty, and the victims have a small stature, scoliosis, and a barrel shaped ribcage. Type 5 has the same clinical features as type 4 but are distinguished by a mesh like bone appearance, it also leads to the calcification of the membrane between the two forearm bones which makes it difficult to turn the wrist. Type 6 has the same features as type 4 but the bones appear to be fish scale like. Type 7 was discovered in 2005 and seems to be limited to a First nations people in Quebec, Type 8 is caused by a mutation in the gene LEPRE1 and is classified as type 8.
Prevention and Treatment of Osteogenesis Imperfecta In the present time, there is no known cure for Osteogenesis Imperfecta but there is treatment aimed at increasing the overall bone strength to prevent fracture and maintain mobility. Physiotherapy is used to strengthen the muscles and improve mobility, while minimizing the risk of a fracture, this usually includes hydrotherapy and the use of cushions to improve posture. Metal rods can also be inserted into the long bones to improve the strength, the idea was originally criticized as it seemed radical, but when they tried, it, it proved extremely useful in the rehabilitation and prevention of fractures. There is no way to prevent OI as it is merely genetic and can not be caught or contracted. However there can be tests taken during pregnancy to find out whether the child will have OI

Susceptible Groups of Osteogenesis Imperfecta Since Osteogenesis Imperfecta is a genetic disease, the only way for someone to contract or get OI is to be born from parent that suffered from OI. However, 35% of children born with OI are born into a family that has no family history of OI, this is often caused by a new mutation to a gene and not by anything the parents did.