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Neurofibromatosis Prezi

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Lexi Anderson

on 4 February 2013

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Transcript of Neurofibromatosis Prezi

Genetic disorder that causes tumors to grow in the nervous system. Neurofibromatosis Symptoms Symptoms of neurofibromatosis vary from victim to victim, but some common ones are: Treatment There is no cure for neurofibromatosis. However, many methods of treatment are available. Inspirational Story Zac, 9 years old, from Chisago City, Minnesota Inspirational Story Cont. Despite years of struggle, hardships, and surgeries, Zac continues to be a kind and friendly individual who likes to make everyone smile. He helps "coach" his brother's hockey team, and every time before they play a game he always says the same thing; "All hat tricks, no penalties. Get out there and play hard!" Two Types of Neurofibromatosis NF1- More common form of the disease NF2- Less common form of the disease -Also schwannomatosis, a type of NF2 in which the individual experiences extreme pain. Chromosomes Affected NF1 is caused by the mutation of chromosome 17 NF2 is caused by the mutation of chromosome 22 How Chromosomes are Affected Everyone is born with two copies of the NF1 gene on chromosome 17, and two copies of the NF2 gene on chromosome 22. One copy is faulty, the other is not. Usually the working copy overrides the faulty one, but sometimes the faulty copy overrides the working one and neurofibromatosis occurs. Chromosome 17 is affected by a mutation in the egg or sperm from a parent and then results in various mutations on the chromosome. Chromosome 22 is affected by a mutation (the kinds of which vary) in the gene that causes it to make protein less suited for tumor protection than it would originally. -Bone deformities -Skin changes (cafe au lait spots, freckling, small bumpy growths called neurofibromas). -Larger than average head circumference -Tumors on the optic nerve -Two or more growths on the iris of the eye -Abnormal development of the spine, skull, or tibia -Bowed legs -Seizures -Hyperactivity -Learning problems -Speech difficulty -Numbness, tingling, and weakness in fingers of toes Neurofibromatosis can also be passed on from parent to child. If an adult with neurofibromatosis has a child there is a 50% chance the child will be born with the disease. Physical treatment: Bracing and acupuncture Medical treatment: Surgery to remove tumors, radiation, chemotherapy, surgery to correct bone malformations, hearing transplants to those who lose hearing from tumor removal, and medicines for various symptoms. Coping/Life skills: Behavioral interventions, behavioral therapy, clinical trials and IEP for learning disabilities. -Diagnosed with NF1 at 19 months old -He was diagnosed a few days before Christmas in 2003, and his father was serving in Iraq at the time. -Received low-dose chemotherapy until age 5 to treat tumor growth. -Lost sight in his left eye after an optic glioma formed there. http://www.childrenscancer.org/main/kids_stories/zacs_story_surviving_neurofibromatosis/ The End Examples of Neurofibromatosis
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