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Neurofiromatosis Type 1
Transcript
Neurofibromatosis Type 1
By: Zea Robinson
Sources
http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1#genes
https://rarediseases.org/rare-diseases/neurofibromatosis-type-1-nf1/
http://www.ncbi.nlm.nih.gov/books/NBK1109/#nf1.Diagnosis
https://www.nlm.nih.gov/medlineplus/ency/article/000847.htm
Diagnosis
- Most are able to dianosis through visual analysis.
- Molecular Genetic Testing
- Eye exam by an ophthalmologist familiar with NF1
- MRI of the brain or other affected sites
- Other tests for complications
Treatment
There is no specific treatment for neurofibromatosis. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). Experimental treatments for severe tumors are under investigation.
The Genetics Behind NF1
- NF1 can occur in people that have a mutated NF1 gene.
- People who have a mutated NF1 gene may or may not have chiildren with the condition (50/50 chnace).
- NF1 is an autosomal dominant trait.
Image by Tom Mooring
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