Kella+Nuerofibromatosis+1

Neurofibromatosis 1 NF1 is a disorder where non-cancerous tumors form. Tumors usually form underneath the skin, on the skin and in the brain and nervous system. They can also appear in other parts of the body such as the eye.
 * Description: **


 * Inheritance: **

For this disorder to be inherited a child would only need one copy of the gene. Each child with a parent of the NF1 has a 50% chance of getting the disorder.

Physical signs vary patient to patient; most patients have spots (the color of coffee with milk) as well as freckles. Spots and freckles tend to increase in amount with age. Others have high blood pressure, bone defects, scoliosis, learning disabilities, and begin tumors on the optic nerve that connects the eye to the brain.
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 * Diagnosis: **

This disease is diagnosed by either physical symptoms or genetic testing. Physicians normally don’t recommend genetic testing for two reasons. One is a diagnosis of NF1 is easy to decide by physical signs. Second, genetic testing currently has no extra benefits for treatment. Also NF1 can be diagnosed by identifying mutations. Genetic testing is super expensive due to the large size of the gene and high number of possible mutations.

There is no cure or treatment for NF1 but surgery can remove the tumors and correct malformed bones. In very rare cases, these tumors become cancerous just like other cancers the tumors are surgically removed and treated with chemotherapy or radiation.
 * Treatment: **

Headache and seizures associated with the disorder are treated with medication. A child with the disorder has a high risk for learning disabilities. Currently there are seven medications being studied to see if they can improve symptoms of Nf1, but they have not yet been proven to help the symptoms.
 * Research: **

About 100,000 Americans have this disorder, NF1 does occur in both males and females. Why tumors occur is unknown but it looks as of they are related to many mutations in the genes that play an important role in cell growth in the nerve system. Those mutations keep Nf1 the gene from forming normal proteins that control cell production. Without those proteins the cells multiply rapidly and form tumors. Just in the U.S about 1 out of every 3,000 to 4,000 people have NF1. In about 30 to 50% of cases the result of spontaneous genetic mutation is an unknown cause.
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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **<span style="color: blue; font-family: Arial,sans-serif; font-size: 10pt;">Pub Med Health