Neurofibromitosis

By: Jonah Severt

What is Neurofibromitosis

Neurofibromitosis is a type of disorder that can cause tumors that form in the brain, spinal cord, and nerves. The body begins to form little tumors all over your body and can spread throughout your body. There is no cure for NF but treatment may help.

What are the types of NF?

NF has two different types of the disorders NF 1 and NF 2. NF 1 appears in childhood and can causes symptoms like, light brown spots on the skin, freckles in the armpits, bone deformities, Etc. NF 2 is less common the NF 1 it causes slow growing tumors shown throughout the body.

Neurofibromatosis - MBNF - PSA

Symptoms

There are many effects to NF including...
  • Soft bumps under the skin
  • learning disabilities
  • Flat, light brown spots on the skin

15% of people with NF can be severely debilitating. NF can grow inside the body and damage the organ system. Puberty and pregnancy can increase the size of NF 50% of people with NF have speech problems, learning disabilities, and seizures.

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Causes

A physical examination by a doctor who specializes with the disorder is preformed. Doctors use special lamps to examine the skin for spots. Doctors may use MRI, X-rays, CT scans, and blood test to detect the NF1 disorder. Many wonder what happens inside your body to develop NF? This questions has still not been discovered but, we have determined that NF is a mutations in the genes. It also can affect the nervous system by delaying cell growth.
Neurofibromatosis - USMLE High-Yield Nuggets

Diagnoses

NF is Diagnosed through X-rays, Physical Examination, Medical history, and much more. Genetic Counseling is encouraged with NF has it helps to treat the genetic disorder. Genetic Counseling is where the patients at risk of an inherited disorder are advised of the consequences and nature of the disorder. Many people with NF advise Genetic Counseling because it helps to know the affects it can have on your life. NF is diagnosed at around age 10 because the features of the disorder are age dependent for proper diagnoses.

Neurofibromatosis treatment

Even though we can not cure NF it can still be treated. There are a couple procedures that can be don like spinal fusion and Laminectomy. Support groups can help as well to cal stress and nerves. You can also have genetic counseling which is where the patients or relatives at risk of NF are advised of the consequences and nature of the disorder, the probability of developing it, and the options open to them in management and family planning.
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Population Effects

Neurofibromatosis affects 1 in 3,000 to 4,000 people in the United States. NF is inherited through your parents. there are also between 30 and 50 percent of new cases result from a genetic mutation of unknown cause.There is not a certain race that develops the disorder more but it is common
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What I Discovered

I have become aware of genetic disorders like Neurofibromatosis and how it can affect your lifestyle by a simple diagnoses and how it can affect anybody. I have also come to understand that we don't know how lucky we are to be born with no disorders and be able to live. NF has opened my eyes personally to live my life to the fullest and to appreciate the life i have to be able to learn and study about genetic disorders like NF.