This Short Essay Is About Neurofibromatosis Which Is A Genetic Disorder Of The Nervous System.

1327 words - 5 pages

The neurofibromatosis (NF) are genetic disorders of the nervous system. At this time twodistinct forms are known: NF1 and NF2. One baby in every four thousand is born in theUnited States with NF1. It is one of the most common genetic disorders, affecting someone hundred thousand americans. NF2 is less common and occurs in only one and everyforty thousand births. In both forms of NF severity of symptoms vary greatly.The effects can be severely disabling, mildly disfiguring or can even go undetected.Several other names for this disorder have been used in the past but recent advancementsin understanding the disorder made some of those terms obsolete.NF1 was previously known as peripheral neurofibromatosis, or von Recklinghouasen'sdisease after the doctor who first described it in 1882. NF2 was called bilateral acousticnuerofibromatosis, central neurofibromatosis, or vestibular schwannoma.NF is found in every racial and ethnic group throughout the world andaffects both sexes equally. Both neurofibromatosis1 and neurofibromitosis2 are causedby abnormal genes. This disease cannot be "caught" from someone who has it already. .A common early sign of NF1 is six or more tan spots on the skin. They arecalled "cafe-au-lait" (French for "coffee with milk") spots. These spots areoften present at birth, and may increase in size and number with age. Theyalso may become darker. More than half of affected children have some signsof NF1 by 2 years of age.Benign tumors (lumps), under the skin or deeper, may appear at any age butespecially during adolescence. The tumors, which grow on nerves, are madeup of cells that surround nerves and other cell types, and are calledneurofibromas. An affected person may have any number of neurofibromas,from none to hundreds. The tumors, which vary in size, may or may not bepainful. A person also may have a single neurofibroma without having NF.Some tumors may grow on the optic (eye) nerves and in rare cases mayinterfere with vision. Tiny tan or brown "Lisch nodules" (small tumors) oftenappear on the iris (colored part of the eye), but these cause no trouble. Theyusually show up around age 6 to 10 years and may help a doctor diagnoseNF1. NF2 is characterized by tumors that grow on what is referred to as the8th cranial nerve (one of 12 pairs of nerves that enter or emerge from the brain). Thesetumors often cause pressure on the acoustic (hearing) nerves, resulting in hearing loss.Persons with NF2 also may develop other tumors of the brain or spinal cord, andsometimes develop cataracts at an early age. Persons with NF2 have few, if any, cafe-au-lait spots or tumors under the skin. Symptoms of NF2 may not begin until after puberty.NF1 and NF2 are caused by two separate abnormal genes. The abnormal gene in eachform of NF can either be inherited from one parent who has the disorder or can resultfrom a new mutation (change) in the gene. Thus, NF can occur in a person who has nofamily history of the condition. About 50 percent of NF1 and...

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