Neurofibromatosis

Only available on StudyMode
  • Download(s) : 118
  • Published : October 17, 2011
Open Document
Text Preview
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, then their child has a 50% chance of getting the disorder. The disorder affects males and females equally.

There are two types of neurofibromatosis, type 1 and type 2. Type 1 neurofibromatosis is the most common form of NF, going for up to 90% of the cases. NF 1 has a disorder frequency of 1 in 4,000 people, making it more common than neurofibromatosis type 2, with a frequency of 1 in 45,000 people. The disorder creates the mutation of neurofibromin. Neurofibromin is a tumor suppressor gene whose function is to inhibit the oncoprotein. NF 1 also increases the risk of tumor development, particularly meningiomas, and gliomas. The disorder gets diagnosed with freckling on the groin, tumors on the optic nerve, and seizures.

The second type of neurofibromatosis is the result of mutation of the merlin which can also be called the schwannominin chromosome. It accounts for only 10% of all cases of NF, and its frequency is lower than NF1 as I mentioned in type 1 NF that it has a frequency of 1 of 45,000 people. It is also caused by a mutation in a tumor suppressor gene, merlin. The tumor may cause headaches, balance problems, paralysis, and deafness. NF 2 increases the risk of meningiomas and ependymomas.

The signs and symptoms of...
tracking img