Neurofibromatosis

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Neurofibromatosis My disorder research paper is about neurofibromatosis, which is a genetically-inherited disorder in which the nerve tissue grows tumors that may cause serious damage by compressing nerves and other tissues. The disorder affects all neural cells such as the Schwann cells and melanocytes. The melanocytes function abnormally in this disease, resulting to disordered skin pigmentation. The tumors would be able to cause bumps under the skin, colored spots, skeletal problems, and other neurological problems. Neurofibromatosis is also an autosomal dominant disorder, which means that only one copy of the affected gene is needed for the disorder to develop. In this case if there were only one parent who has neurofibromatosis,…show more content…
In the case of NF-2, however, final results are similar among family members; a strong genotype-phenotype correlation is believed to exist. Both NF 1 and NF 2 can also appear to be spontaneous de novo mutations, with no family history. These cases account for about one half of neurofibromatosis cases. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2. There are no cures or treatments for this disorder; but the only therapy for patients with neurofibromatosis is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths. Although there is no cure for NF, the Neurofibromatosis Association is optimistic there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counseling is available. The history of the disease was first described in 1882 by the German pathologist, Friedrich Daniel von Recklinghausen. Recklinghausen was successful in generating some of the most descriptive medical observations of his time, making him the first person to
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