Neurofibromatosis Calley and Mickey.

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Presentation transcript:

Neurofibromatosis Calley and Mickey

What Type of Mutation is it? Point Mutation NF1: NF1 gene NF2: NF2 gene Schwannomatosis: INI1 gene

How Do You Obtain This Disease? Inherited, most of the time Common random mutation Schwannomatosis: 85% NF 1: 30-50% NF 2: 50%

What are the Symptoms? Beginning: flat, dark brown spots Neurofibromas Poor balance Ringing in ears Evolves into massive tumors on PNS

What is the Frequency of Occurrence? NF type 1: 1 in 3,000 NF type 2: 1 in 25,000 Schwannomatosis: 1 in 40,000

NF These people are victims of NF.

Who Does it Affect? Anyone

What Areas Does the Disease Affect? NF1: Peripheral nervous system (PNS) NF2: 8th cranial nerve & PNS Schwannamatosis: Schwann cells

What are Some Treatments? Stereotactic radiosurgery Removing cancerous tumors High-concentrated radiation

What is it Like to Live With it? Deafness Blindness Difficulties with everyday tasks Stay secluded from society

Work Cited Diagnosis of NF1. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May 2014. <http://www.ctf.org/Learn-About-NF/Diagnosis-of-NF1.html>. Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis. N.p.: Elsevier Inc, 2014. Web. 8 May 2014. <http://www.sciencedirect.com/science/article/pii/S000292970761115X>. Learning About Neurofibromatosis. N.p.: n.p., 2014. Web. 12 May 2014. <http://www.genome.gov/14514225>. Living with Neurofibromatosis. N.p.: HARPO PRODUCTIONS, INC, 2014. Web. 8 May 2014. <http://www.oprah.com/oprahshow/Living-with-Neurofibromatosis>. Neurofibromatosis. N.p.: Mayo Foundation for Medical Education and Research, 2014. Web. 8 May 2014. <http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/basics/symptoms/con-20027728>. Neurofibromatosis. N.p.: Remedy Health Media, 2014. Web. 8 May 2014. <http://www.healthcommunities.com/neurofibromatosis/treatment.shtml>. NF1. N.p.: U.S. National Library of Medicine, 2014. Web. 12 May 2014. <http://ghr.nlm.nih.gov/gene/NF1>. N.p.: University of Miami, 2014. Web. 8 May 2014. <www.themiamiproject.org/page.aspx?pid=871>. Schwannomatosis. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May 2014. <http://www.ctf.org/Learn-About-NF/Schwannomatosis.html>. Stereotactic radiosurgery - CyberKnife. Rockville Pike, Bethesda: n.p., 2014. Web. 8 May 2014. <http://www.nlm.nih.gov/medlineplus/ency/article/007274.htm>.