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Cell Biology

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"Neurofibromatosis." Mayo Clinic. Created by Mayo Clinic Staff, 03 Jan. 2013. Web. 04 Feb. 2015. . Genetics Home Reference. Rep. N.p., n.d. Web. 01 Feb. 2015. . "Neurofibromatosis Type 1 - Causes ." Neurofibromatosis Type 1. N.p., 16 Apr. 2013. Web. 06 Feb. 2015. . "Neurofibromatosis-1: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 04 Feb. 2015. .

Neurofibromatosis is a genetic disorder that disturbs the cell growth in the nervous system. This causes tumors to form which are usually non cancerous. These tumors can form anywhere in the nervous system and they are most common on the nerves, spinal cord, and the brain. People with this genetic disorder generally face mild symptoms. Some of these are hearing loss, learning imparment, heart and blood vessel complications due to the tumors pushing on nerves, loss of vision, and severe pain.


Neurofibromatosis type 1 is caused by a genetic mutation in a gene called the NF1 gene. The defective gene that causes neurofibromatsois 1 is found on chromosome 17. Normally this gene produces a substance called neurofibromin which is meant to stop the growth of nerve tissue once it meats a certain size. It does this by "turning off" another protein that stimulates cell gowth and division. Neurofibromatosis 1 is a autosomal dominant disorder so if they have any kids the kids have a 50% chance of getting this disorder if only one parent has it. This disorder is most commonly passed down from parent to the kids but sometimes it can develop on its own which is called a sporadic mutation. Males and females both have equall chances of getting this disorder.

Where is it found and how is it caused?

Neurofabromatosis is not cureable but there are treatment methods that are meant to relieve symptoms. Tumors that appear on the skin can be removed surgically but most of the time they cannot be completely removed and they will most likely grow back. The tumors may also be shrunken down with radiation therapy if they are too close to the nerve but sometimes they can remove the nerve with the tumor.

A person with Neurofibromatosis 1 can live a normal lifespan if there aren't any complications. With the right education they can live and almsot normal life except some people are treated differently because they have a lot of visible tumors on their skin. People with Neurofibromatosis 1 have a slight learning disability but otherwise they are fine. In some cases people may develop a severe tumor which may shorten a persons lifespan.

Also known as von Recklinghausen DiseaseBy: Bailey Wallace


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