Osteoporosis Imperfecta Symptoms

Posted on November 19th, 2010

Osteogenesis imperfecta causes extremely fragile bones. The disease is also known as Brittle bone disease.

What Causes Osteoporosis Imperfecta (OI)?

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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Symptoms of Osteoporosis Imperfecta

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

Osteoporosis Imperfecta Treatment

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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1. Osteogenesis Imperfecta Symptoms Diagnosis Treatment of Osteogenesis Imperfecta – Free articles and multimedia from The NY Times including information on symptoms diagnosis treatments tests and surgical procedures
2. Osteogenesis imperfecta Symptoms Diagnosis Treatments and Causes WrongDiagnosis.com – Osteogenesis imperfecta information including symptoms diagnosis misdiagnosis treatment causes patient stories videos forums prevention and prognosis.
3. Osteogenesis imperfecta Symptom – Osteogenesis imperfecta Symptom Osteogenesis imperfecta is a condition causing ext… meta name keywords content Osteogenesis imperfecta osteogenesis
4. Osteogenesis Imperfecta Symptoms – Symptoms of osteogenesis imperfecta include short stature weak muscles and bones that fracture easily.
5. Osteogenesis Imperfecta Bone and Connective Tissue Disorders in Children Merck Manual Professional – Osteogenesis Imperfecta Bone and Connective Tissue Disorders in Children Merck Manual Professional
6. Osteogenesis imperfecta Wikipedia the free encyclopedia – Osteogenesis imperfecta Wikipedia the free encyclopedia

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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• If the body does not destroy the improper collagen, relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness.
• Another suggested disease mechanism is that stress state within collagen fibrils is altered at the locations of mutations, where locally larger shear forces lead to rapid failure of fibrils even at moderate loads as the homogeneous stress state found in healthy collagen fibrils is lost.
• These recent works suggest that OI must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, micro- and macro-level of tissues.

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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