Neurofibromatosis Type 2 (NF2)By: Colin ConnerBackground history Friedrich Daniel von Recklinghausen discovered Neurofibromatosis Type 2 in 1882. He looked over previous cases of NF2 and noticed that multiple tumors in the skin, peripheral, and autonomic nerves. He also discovered that patients with the disease would also have different forms of neoplasms and malformations with the brain, spinal cord, meninges, autonomic ganglia, and the roots of the cranial, and other tissues.Symptoms of diseaseThe signs and symptoms of NF2 start to appear as a person enters their early twenties, but they can begin at any age. Most of the symptoms of NF2 are hearing loss, ringing in the ears, and trouble balancing. Most situations tumors occur in both eats by the age of 30. If the tumors occur in a different location the symptoms can vary. The tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some even experience cataracts in their eyes during childhood. Genetic cause of diseaseNeurofibromatosis type 2 is an autosomal dominant genetic syndrome caused by a change or deleting of the NF2 gene. The gene NF2 gene programs the cytoskeletal protein neurofibromin 2 and is located on the long (q) arm of the chromosome 22.Therapy or treatment Surgery is usually treatment for most peripheral nerve tumors with NF2. Surgery can also be recommended for ependymomas and meningiomas with NF2 if they become symptomatic. Other form of treatments can include physical therapy, medication, other things depending on the symptoms caused by NF2.FAQ’s: Q:How can neurofibromatosis affect daily life?A:Neurofibromatosis type 2 can be very hard for someone and their daily lives as it might be hard for them to see or walk due to a tumor growing on one side of their head. For kids with the disease it could be very hard as they might be subject to a lots of jokes from people who don’t know what is going on or a lot about the disease itself.Q:What is the life expectancy for someone with NF2.A: The life expectancy for someone with NF2 is 65 years of age. BibliographyDefendi, Germaine L., MD, MS, FAAP. “Genetics of Neurofibromatosis Type 1 and Type 2.” Medscape, 6 Apr. 2016, emedicine.medscape.com/article/950151-overview#a3. Accessed 24 Jan. 2018.”Effects on Daily Life.” Neurofibromatosis, neurofibromatosis-what-is-it.weebly.com/effects-on-daily-life.html. Accessed 24 Jan. 2018.”Neurofibromatosis Type 2.” Genetics Home Reference, 23 Jan. 2018, ghr.nlm.nih.gov/condition/neurofibromatosis-type-2. Accessed 24 Jan. 2018.”Neurofibromatosis Type 2.” Your.MD, 2018, www.your.md/condition/neurofibromatosis-type-2/. Accessed 24 Jan. 2018.”Treatment for Neurofibromatosis (NF) Type 2.” John Hopkins Medicine, www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neurofibromatosis/nf2/treatment-nf2.html. Accessed 24 Jan. 2018.Wilkins RH, Brody IA. Von Recklinghausen’s Neurofibromatosis. Arch Neurol. 1971;24(4):374–375. doi:10.1001/archneur.1971.00480340106012Image citationshttp://neurofibromatosis-17q11.tumblr.com/https://nf2is.org/awareness.php
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