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Neurofibromatosis Type 1

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alexis h

on 3 December 2014

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Transcript of Neurofibromatosis Type 1

What is Neurofibromatosis type one
Neurofibromatosis is a genetic disorder the effects nerve tissue. It causes the tissue to grow uncontrollably and puts pressure on the surrounding nerves.
Symptoms
blindness
brief black out periods
freckles in underarm
large soft tumors
pain (from effected nerves)
small rubbery tumors
cancer
Treatments
There are no treatments for neurofibromatosis. Tumors that cause pain or dis function can be removed but will possible come back. Tumors that have grown quickly should be removed right away or cancerous results may come into effect. But experimental treatments are under investigation.
What is the percentage of people effected by NF1
The percentage of people effected by NF1 is very small. It is 1 in 3,000 to 4,000.
What area does NF1 effect?
NF1 effects the nerve tissue of the body or the places listed below.
the bottom layer of skin (subcutaneous tissue)
Nerves from the brain (cranial nerves)
The spinal cord (spinal root nerves)
The skin
Can it effect a type of people more then others?
The answer to this question is no. NF1 effects all kinds of people.
Neurofibromatosis Type 1
How is this disorder inherited and is it recessive or dominant?
The disorder is inherited in an autosomal dominant pattern only half of the time. In other words the child only needs to inherit one copy of the defective gene to be effected by the disorder.
The other half of the time the disorder takes effect is not from family history. It occurs during the egg and sperm production or in early embryonic development (during pregnancy). Embryonic mutations won't be presented in every cell of the body, just in some of the cells. If this does occur in egg and sperm cells, the person can pass the defective copy to their children. Then because the gene is very large, making it more likely to occur, the NF1 mutations will become more frequent.
How do doctors diagnose NF1?
A majority of the time NF1 is easy to diagnose. Its is normally easy because of physical symptoms or family history . NF1 can be diagnosed by sequencing a persons NF1 gene to identify the mutation. Because of how large the gene is and the high number of possible mutations the genetic test is normally impractical. Doctors don't usually recommend genetic testing for the disorder the one expectation for people who have NF1 in family history. If another family member has been tested and proven positive to have the disorder then it is easy to look for that same mutation in another family members. Finding the mutation would then confirm the diagnosis for Neurofibromatosis.
"Learn Genetics." Learn Genetics. N.p., n.d. Web. 25 Nov. 2014.
"National Library of Medicine - National Institutes of Health." U.S National Library of Medicine. U.S. National Library of Medicine, 18 Nov. 2014. Web. 23 Nov. 2014.
http://www.mayoclinic.org/search/search-results?q=neurofibromatosis%20type%201
Other Names
NF1
Full transcript