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Neurofibromatosis Type 1
Neurofibromatosis is an inherited genetic disorder caused by one or more changed genes. At east two types of neurofibromatosis have been reported: Neurofibromatosis Type 1 (NF1), which is most common form affecting nearly 1 individual in every 4000. It was first described in medical research in 1882 when it was referred to as von Recklinghausen disease. Laycock-va, Thoma, Cooper et al. (2011, p. 12) indicates that genes act like a set of instructions that controls human growth and body functioning system. Therefore, any alteration in genetic instructions causes a mutation that can stop the gene from working appropriately. Mutation results from a genetic disorder and any individual suffering from neurofibromatosis type 1 have a mutation in the same gene. Medical literature evidences that neurofibromatosis type 1 results from changes in a gene that makes some cells in the body to grow uncontrolled. The growth causes challenges related with neurofibromatosis type 1. The common symptoms of neurofibromatosis type 1 includes evidence of six or more light brown spots on the skin, freckling armpit and groin area, two or more neurofibromas, a tumor on optic nerve, and abnormality in spine development. Currently, there is no cure for neurofibromatosis type 1, yet initial treatment of some problems can reduce and prevent complications. Individuals suffering from the condition should get their spine, blood pressure, eye checked annually.
Inheritance of Neurofibromatosis Type 1
Everybody has two copies of neurofibromatosis type 1 gene; however, an individual only has a single copy changed of the gene to develop the disorder (Jett & Friedman 2010, p. 7). The normal copy of the gene cannot compensate for the effects of the copy with the mutation. Therefore, when people with neurofibromatosis type 1 bear children, they can pass on either their mutated or normal copy of the gene to the offspring. Therefore, the chances of inheritance are 1 in 2 or 50 percent of the mutated gene. Likewise, there is 50 percent chance of their offspring inheriting the normal gene copy. Jett and Friedman (2010, p. 7) finds that in some scenarios, an individual with neurofibromatosis type 1 can be the only person affected in the family. In such cases, one of the parents may be so mildly affected that they fail to realize that they have developed the condition. However, if the parents are provided medical screening and found not to be having neurofibromatosis type 1, then the mutation in the gene has probably happened for the first time in the family. Medical literature indicates that such cases occur in 25-50 percent of cases with neurofibromatosis type 1. Meanwhile when this occurs, the parents have chances of having another child with the disorder.
Dimitrova, Yordanova and Pavlova et al. (2010, p. 64) conducted a research based on a real case study of a 52-year old patient suffering from neurofibromatosis type 1. According to them, manifestations have been previously observed and described initially by William Smith in 1849. The description followed a classic description by Friedrich Daniel von Recklinghausen in 1882. According to the case study report, neurofibromatosis consists of at least two separate genetic disorders (NF1 and NF2) that are described by multiple café-au-lait spots. Moreover, the occurrence of neurofibromas are often soft, lilac pink-colored tumors and sometimes pedunculated or fresh.
Moreover, National Institutes of Health (2008). established that most people with Neurofibromatosis type 1 never
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