Topic > Neurofibromatosis - 793

NeurofibromatosisNeurofibromatosis is a disease that affects the chromosomes of the human body. It is a hereditary disease that affects the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1 and the least common type is NF 2. Both disorders are transmitted in an autosomal dominant manner. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor located on any chromosome other than the sex chromosome. Both are characterized by the presence of multiple neurofibromas. The main symptom of these disorders is tumors that form at the ends of nerves throughout the body. NF 1 is most commonly diagnosed in childhood. The most noticeable symptoms appear to occur during adolescence and pregnancy. Although the symptoms of NF vary and are unpredictable, another common sign is brown spots on the skin. The marks on the body usually measure 0.5 cm in diameter for younger children and can reach 1.5 cm in adulthood. They can also decipher NF by looking at marks or freckles on the iris. The most common tumors that occur with NF 1 are found under the skin. They have also been found in deeper areas of the body. The amount or severity of pain caused by these tumors can range from minimal, sporadic pain to severe, constant pain. One of the most serious and noticeable effects of these tumors is disfigurement and orthopedic problems. These problems include scoliosis and pseudoarthritis. There may also be some delay in sexual maturation. There are many other learning disabilities and optical problems that can develop throughout their life. Neurofibromatosis 2 has symptoms…middle of the paper…body and face. His right hand was 3 to 4 times larger than that of an average man. His life certainly spread knowledge and increased the knowledge we have today about neurofibromatosis. Bibliography: Cook, Robert. 1994. The Gene Wars: Science, Politics, and the Human Genome. W. W. Norton Co., New York.Howell, Michael and Peter Ford. 1980. The True Story of the Elephant Man. Penguin Books, New York.Lewis, Ricki. 1994. Human Genetics, Concepts and Applications. Wm. C. Brown Publishers, Dubuque.Lyons, Jeff. 1995. Altered Destinies. WW Norton Co., New York Milunsky, Aubrey MD. 1992. Heredity and family health. John Hopkins University Press, Baltimore.Side, Lucy MB. 1997. “Homozygous Inactivation of the NF1 Gene in Neurofibromatosis Type 1 and Myeloid Disorders.” The New England Journal of Medicine. 336, 1713-19.