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Neurofibromatosis Research Paper

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Neurofibromatosis is a typical noncancerous condition that causes benign tumors to form in the brain, spinal cord, and nerves that encompass the body. There are two distinct types of neurofibromatosis, each resulting from a different genetic mutation, and each with potentially fatal symptoms. Symptoms may include difficulty with balance, hearing and vision loss, bone deformities, and chronic pain throughout the body. There is no cure for this condition however there are treatments that are able to delay the process, such as surgery or back braces. Neurofibromatosis is detrimental to the lives of those affected due to the severity of several of its symptoms. Neurofibromatosis type one, also known as peripheral neurofibromatosis, is a result …show more content…
This disorder is distinguished by the growth of noncancerous tumors specifically in the nervous system. The NF2 gene codes for cytoskeletal protein neurofibromin 2. The NF2 gene provides instructions for making a protein called schwannomin (merlin), which acts as a tumor suppressor, which keeps the cells from growing or dividing too quickly. The mutation within the NF2 gene is caused by a nonfunctional version of schwannomin that cannot control the growth and division of cells. When schwannomin is not properly functioning, it allows cells, similar to Schwann cells, to accumulate too regulatory and form the …show more content…
Occasionally, early stage symptoms include hearing loss, tinnitus (ringing in the ears), and having troubles with balance. Generally patients in their thirties will grow tumors in both ears. Rarely patients develop cataracts, clouding of the lense, in either one or both eyes, often in early childhood. Similar to type 1, there is no cure, but there are options. It is possible to surgically remove the tumors, but the risks are detrimental, for example, removing tumors from the nerve tissue could further damage your hearing and cause paralysis of your facial muscles. Removing tumors from the spinal cord can be risky as well, it carries a slim chance of damaging your spinal cord which could lead to paralysis. Often times, it is necessary to have surgery because if not treated properly, such as a tumor aging in the brain, causing vital damage, would lead to more

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