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by ndc2000
Last updated 6 years ago

Health & Fitness

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It is a bone disease that makes bones abnormally dense. This leads to the bones being more likely to break and fracture.There are a few different forms of osteopetrosis. Some versions are ADO or autosomal dominant osteopetrosis, ARO or autosomal recessive osteopetrosis, and IAO or intermediate autosomal osteopetrosis.SMO is another form.(Video)

The main treatment for this disease would be a bone marrow transplant. This has the ability tocompletely get rid of abnormal osteoclasts and replaces them with normal ones.

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What is it?

It is a gene related disease. Mutations in at least nine genes cause the various types of osteopetrosis.The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts. These cells break down bone tissue during bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. The disease prevents this from occuring correctly. Its transfered most often by a carrier parent on the X cohromosome.




Osteopetrosis can be noticed with abnormal and minor bumps and bruises. ARO also can have abnormal bleeding, low red blood cell counts, and is therefor more severe than ADO. It can also lead to many infant disorders or sicknesses.All the versions of this are noticable at infantry and childhood. IAO is the most severe hover, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.


Video Link to SMO

There is no prevention due to this being a gene related disease.


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