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What is neurofibromatosis?

Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.

The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.

Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain.

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NF is caused by a mutation (or spelling mistake) in one of the genes. About half of the people who have NF have no family history. In other words, it has occurred “out of the blue” with no-one else in the family being affected. This is called a spontaneous gene mutation. The other half of people will have inherited NF from their mother or father.

NF occurs in all races. It affects both men (and boys) and women (and girls) equally.

NF varies from one person to another even in the same family. Some people will be mildly affected with very few health problems. Others will have some serious health problems that mean that daily life is difficult and it restricts what they can do.

With a condition that varies so much, it is important to learn some basic facts about NF, and to understand when you need to seek help from your doctor.

Neurofibromatosis is in fact a term for a group of conditions affecting mainly the nervous system and skin. There are differences in the three main groups: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and Schwannomatosis.

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Information Credit: 

http://www.nfauk.org/what-is-neurofibromatosis

http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/home/ovc-20167893

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