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Neurofibromatosis Research Paper

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Neurofibromatosis(NF) is describe as a nervous system disorder that can affect many different organs in the body; which generally includes the (skin, nerves, brain and spinal cord) as a result of tumor growth on the nerve tissues. This disorder can pass on from parent to child if one of the parents is a carrier for the defected gene or it can develop from a change (mutation) in the “genetic material of the sperm or egg at the conception in families with no previous history of NF.” (Bartoshesky, 2011) There are three types of neurofibromatosis: neurofibromatosis type 1(NF1) also known as Von Recklinghausen, neurofibromatosis type2 (NF2), and Schwannomatosis. Diagnosed of the disease normally depend on specific symptoms, people with NF can …show more content…

According to Medical News Today the inherited gene that causes NF1 can be found on chromosome 17 on the DNA (deoxyribonucleic acid) strands. Individual with NF normally develop brown spots (café au lait) at birth or during early childhood but, for a diagnosis more than six spots must be present. Or two of the following symptoms: soft tumors (neurofibromas) on the skin or under the skin, bone abnormalities, bowed legs or curving of the spine, vision problem, speech and learning disabilities, oversized head in children, freckles in the groin or armpit, and other skin folds.(Hsieh, 2015). Diagnose may also include x-rays, CT(computed tomography) scan, MRI(magnetic Resonance Imaging) scan of the brain or spine to detect tumors and blood test for genetic …show more content…

This disorder is the rarest of the three according to Medical News Today only 15% of the people who inherited neurofibromatosis have this type and some estimated 1 in 40,000 people get it. Schwannomatosis can cause intense pain anywhere in the body as a result of tumors (called schwannomas) that can develop on the cranial, spinal and peripheral nerves. For some people that’s there only symptom. (Mayo Clinic, 2013) Like NF1 and NF2 symptoms and severity varies from person to person. Beside pain, some people may develop tingling, numbness, weakness in the fingers and toes.(Ninds. Nih, 2015) Unlike NF2 people with this type do not develop tumors in the inner ears and do not go deaf. This disease usually affected people in the late stage of life but, prior to late 20s or 30s. (Mayo clinic, 2013) According to (NF Midwest) schwannomatosis was recently recognized that the reason why there is very little information to the causes and treatment for the disorder. Researcher have identified the disorder with” mutation of the SMARCB1 gene located on chromosome 22;” as one of the genes that can cause schwannomatosis. Therefore, it may be inherited or cause by gene mutation. (Mayo Clinic, 2013) As far as diagnosis, genetic testing is done on individual that might have this type of NF and also, if “two or more schwannomas with at least one that has been shown to be a schwannoma on a pathology report.”(nfmidwest, 2012) Treatment

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