Neurofibromatosis

Diagnosis/Symptoms/Signs

Type One

Diagnosis for Neurofibromatosis type one is when you see feckles under the arm or near groin. Also multiple (More than 7) café au lait spots are found which are like larger freckles which are lighter or darker than the regular skin color. Lisch nodules which are tiny growths apear on the iris of the eye but they don't effect the 𓁹 sight of the indivisual. As well as tumors along optic nerve which can cause sight to vanish. In addition to this small or large tumors apear under, above or deep within skin, But they are harmless in rare cases they turn cancerous. Scoliosis is as well a possible sign of neurofibromatosis as well as bowed legs. Nerve related pain also appears in the individual.

Lisch nodules

Type Two

For type two Neurofibromatosis Muscles in the face weaken which cause inability to eat normally. Poor balance leads to uncoordinated walking, Loss of hearing is common along with cataracts in the eyes an an early age.

Cateracts in childs eyes

DNA mutation or Heriditery

Neurofibromatosis is both a DNA mutation and Heriditery. Both Neurofibromatosis type one and two are due by admiral mutations in the genes. it can be inherited from a parent who has Neurofibromatosis or from a mutation in the sperm or egg cell from parent. Neurofibromatosis mutation is a domaint gene due to it being in one of the 22 autosome pairs. the gene for Neurofibromatosis type one is found on the 17th chromosome. The gene for Neurofibromatosis type two is in chromosome number 22. If a parent has Neurofibromatosis their child has a 50/50 chance of getting either type one or two depending on the parent. The only way the child will get Neurofibromatosis from the parent is if its strong in the genes and symptoms are high as well. People with Neurofibromatosis have two different reproductive cells, ones who have the Neurofibromatosis in them and ones who Neurofibromatosis don't carry it. But if the non Neurofibromatosis gene is there doesn't mean it won't get Neurofibromatosis if the Neurofibromatosis gene is domanit it can still get the Neurofibromatosis gene.

Treatments

There are no treatments for the actual mutation but there is ways to treat the effects the of the disorder. For type one, sugery is an option in removing tumors although they can grow back again, optic gliomas & scoliosis. For type two there is a possibility that surgery to the eyes will make the blindness worse in some way as well as trying to help the dethness with surgery due to the nerve damage type two does to the eye and hearing nerve.

https://www.genome.gov/14514225/learning-about-neurofibromatosis/

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