Neurofibramatosis BY: Lilliana huskey

This is called Neurofibramatosis (A.K.A the elephant man symdorm) its a genetic disorder that can affect the brain, spinal core, nerves and skin. The tumors will grow along the body's nerves underneath the skin.It can also cause the bones in the body to be deformed this disorder has been around since the 1700's. In the 18000 Sir Frederick Treves was the first to document Joseph Merrick who was born with this genetic disorder but it didn't appear until his teens. He was referred to as the Elephant Man.


There two types of Neurofibramatosis NF1 and NF2. Type NF1 can cause bone deformities, learning disabilities, and high blood pressure. While NF2 can cause hearing loss, vision loss and no balance. This can be caused by two separate abnormal genes or it can be inherited from parents who already have NF. Another way for it can be inherited would be the result of a mutation in the sperm or egg cells. The mutation is will happen in one of the 22 chromosome pairs. The offspring will have a 50% chance of inheriting the NF from the parents.


Neurofibermatosis is diagnosed by doctors examining the body than look at the families medical history. Mostly the diagnosed process is mainly a physical examination. The Your doctor may use a special lamp to check your skin for cafe au lait spots. The physical examination and family history are also very important for NF2. Doctors will recommend eye exam, ear exam, image testing and genects testing.


The treatment for neurofiberamatosis is several types of ways to treat it. Like using a device called a Cochlear implant it's for people who have NF2 in the ear it will allow a deaf person to hear sounds. There is also a spinal fusion surgery it will join together two or more bones in the spine so there is no movement between them. Not only that there are specialists who can help you like neurologist, Primary care provider, Neurosurgeon, and medical geneticist.


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