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Neurofibromatosis Calley and Mickey
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What Type of Mutation is it?
Point Mutation NF1: NF1 gene NF2: NF2 gene Schwannomatosis: INI1 gene
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How Do You Obtain This Disease?
Inherited, most of the time Common random mutation Schwannomatosis: 85% NF 1: 30-50% NF 2: 50%
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What are the Symptoms? Beginning: flat, dark brown spots Neurofibromas
Poor balance Ringing in ears Evolves into massive tumors on PNS
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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
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NF These people are victims of NF.
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Who Does it Affect? Anyone
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What Areas Does the Disease Affect?
NF1: Peripheral nervous system (PNS) NF2: 8th cranial nerve & PNS Schwannamatosis: Schwann cells
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What are Some Treatments?
Stereotactic radiosurgery Removing cancerous tumors High-concentrated radiation
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What is it Like to Live With it?
Deafness Blindness Difficulties with everyday tasks Stay secluded from society
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Work Cited Diagnosis of NF1. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May < Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis. N.p.: Elsevier Inc, Web. 8 May < Learning About Neurofibromatosis. N.p.: n.p., Web. 12 May < Living with Neurofibromatosis. N.p.: HARPO PRODUCTIONS, INC, Web. 8 May < Neurofibromatosis. N.p.: Mayo Foundation for Medical Education and Research, Web. 8 May < Neurofibromatosis. N.p.: Remedy Health Media, Web. 8 May < NF1. N.p.: U.S. National Library of Medicine, Web. 12 May < N.p.: University of Miami, Web. 8 May < Schwannomatosis. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May < Stereotactic radiosurgery - CyberKnife. Rockville Pike, Bethesda: n.p., Web. 8 May <
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