Osteogenesis imperfecta (OI) is a genetic disorder that causes brittle bones. There are eight recognized types, ranging from mild to fatal, with different symptoms and levels of severity. Treatment includes surgery, physical therapy, and medication, but there is no cure.
Osteogenesis imperfecta (OI), also called brittle bone disease, is a deficiency of genetic proteins that results in brittle bones. The protein involved is usually type I collagen. The disorder is usually a dominant genetic trait that is passed on from parents, but it can also be a de novo mutation, with no family history. There are also two rare and recently discovered forms of osteogenesis imperfecta that are recessive genetic traits.
There are currently eight recognized types of osteogenesis imperfecta, ranging from mild to fatal. Most types cause deformities. In OI type I, collagen is of normal quality, but not enough is produced. This is the mildest type, although the bones break easily. Other symptoms include discoloration of the whites or whites of the eyes, early hearing loss, slightly bulging eyes, slight curvature of the spine, loose joints, and poor muscle tone.
Type II OI is the most severe form, in which collagen is of insufficient quality and quantity. The deformities and respiratory problems are severe and most cases die within the first year of life.
In types III, IV, V and VI OI, collagen is produced in normal quantities, but its quality is poor. OI types III, IV, V, and VI sufferers are characteristically short in stature, with a curved spine and a barrel-shaped rib cage. Type III is distinguished by being progressive; deformities and other symptoms may be mild at birth but develop over time.
Symptoms of type III OI are similar to those of other types, but more severe. Severe bone deformities can occur, and bones can break even before birth. Breathing problems are also possible.
OI types IV, V, and VI share the same clinical features. The deformities are mild to moderate, often accompanied by discolored sclera and early hearing loss. The risk of bone fractures is highest before puberty. Type V is characterized by a “mesh” appearance to the bones, while the bones of a person with type VI have a “fish scale” appearance.
Osteogenesis imperfecta is an incurable condition. Treatments to manage the disease include surgery, physical therapy, and physical aids. Bone infections are managed with antibiotics and antiseptics when they occur. Medications, whether oral or intravenous, are also used to treat osteogenesis imperfecta. Bisphosphonates are most commonly used for this condition. Clinical trials have evaluated the efficacy of Fosamax, currently used for the treatment of osteoporosis, for osteogenesis imperfecta. However, the long-term effects of such treatment are unknown, and the United States Food and Drug Administration has not yet approved the drug for osteogenesis imperfecta.
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