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Neurofibromatosis. By D anielle Such. What is it?. A genetic disorder of the nervous system that affects how nerve cells form and grow, causing tumors to grow on the nerves. It can be inherited from your parents, or can be caused from a mutation in a person’s genes.
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Neurofibromatosis By Danielle Such
What is it? • A genetic disorder of the nervous system that affects how nerve cells form and grow, causing tumors to grow on the nerves. • It can be inherited from your parents, or can be caused from a mutation in a person’s genes. • There are two main types of Neurofibromatosis. • http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html
Symptoms • Type 1 • Multiple tan patches on the skin • Freckles on the groin • Nodules within the iris of the eyes • Small skin lesions • Bone defects • Vision disorders • Learning disorders
Type 2 • Bilateral acoustic neuromas (masses around the eight cranial nerve in the brain) • Hearing loss • Facial weakness • Headaches • Unsteadiness/ imbalance • Brain tumors (less common) • Lens abnormalities (less common) • Learning disorders http://www.healthscout.com/ency/68/538/main.html
Causes • Can be inherited from your parents in an autosomal dominant manner. -OR • Can be caused from a mutation in a person’s genes. http://www.healthscout.com/ency/68/538/main.html
Treatment Prevention No known way to prevent neurofibromatosis after birth. • No specific treatment • Removal of tumors
Screening • Genetic counseling and genetic testing can help parents decide whether to have the baby or not.
Population • 1 out of every 4000 people are affected. • An estimated 100,000 Americans. • Occurs in both males and females, and in all races and ethnic groups
Individuals with this disease can be identified by tumors, lesions, and deformations on the skin, thus may be avoided by some and accepted by others, sometimes depending on the severity.