Osteogenesis imperfecta causes extremely fragile bones.

The disease is also known as Brittle bone disease.

Osteogenesis imperfecta is present at birth and many times caused by defect in the genes that produces type 1 collagen which is the building block of bone. OI patients may pass the gene to the next generation 50% of the time.

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The OI patients are generally are below average height with short stature.

The disease is non-curable. But medication can reduce the pain and complications due to OI. Osteogenesis imperfecta (OI) have bones that fracture easily, low muscle mass, and joint and ligament laxity. A definitive diagnosis may be made using a skin punch biopsy. Family members may be given a DNA blood test.

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Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or “Lobstein syndrome”) is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.

There are four distinct types of OI: types I, II, III, and IV.

This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid side-chains create steric hindrance that creates a bulge in the collagen complex, which in turn influences both the molecular nanomechanics as well as the interaction between molecules, which are both compromised. As a result, the body may respond by hydrolyzing the improper collagen structure.

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As a genetic disorder, OI is an autosomal dominant defect. Most people with OI receive it from a parent but it can be an individual (de novo or “sporadic”) mutation.

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