Neurofibromatosis Research Paper

Neurofibromatosis The genetic disorder I chose is called Neurofibromatosis. There are three types of Neurofibromatosis: Type 1 (von Recklinghaus disease, peripheral NF, Recklinghausen neurofibromatosis), Type 2 (bilateral acoustic NF, central NF or vestibular NF), and schwannomatosis. Schwannomatosis used to be considered a variation of neurofibromatosis type 2 but is now recognized as different from neurofibromatosis type 2. Neurofibromatosis types 1 and 2 are autosomal dominant traits. Offspring have a 50% chance of inheriting neurofibromatosis types 1 and 2 from parents. Genetic counseling is available for neurofibromatosis type 1 and 2. If parents are carriers they would have the disease since it is dominant. Schwannomatosis is not well understood and the inheritance pattern is not known. Therefore, there is no test to see if the parent is a carrier. Neurofibromatosis …show more content…
Symptoms usually begin in early adulthood but can begin in middle age if it is mild. Symptoms can include schwannomas, brain tumors, tinnitus and hearing loss or deafness, cataracts, spinal tumors, balance problems, muscle atrophy, focal neurological issues, headaches, and pain. Neurofibromatosis affects the brain, nerves, and spine. Doctors generally use the same diagnostic tests for Neurofibromatosis type 1 that they use for type two aside from to diagnose type 2 an ear test may be required. Monitoring using imaging tests are important for type 2. Treatment for neurofibromatosis can include surgery to remove tumors and chemotherapy or radiation if they are cancerous. Stereotactic radiosurgery can be used for tumors and to help slow hearing loss. Physical therapy can help with balance problems and medication can be used to alleviate pain. Cochlear implants and auditory brainstem implants can be implanted for assistance with hearing. The average life expectancy for someone with neurofibromatosis type two is 65 and it is usually not