Neurofibromatosis
4 Pages 924 Words
Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. 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. They are both characterized by occurrences in multiple neurofibromas. The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly diagnosed during childhood. The most outstanding symptoms seem 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 markings on the body usually measure .5cm in diameter for younger children and can reach 1.5cm by adulthood. They can also decipher NF by observing markings or freckling on the iris. The most common tumors occurring with NF 1 are located under the skin. They have even been found in deeper areas of the body. The amount or severity of pain from these tumors can range from minimal pain sparsely to intense pain constantly. One of the most severe results and the most apparent results of these tumors is disfigurement and orthopedic problems. These problems include scoliosis and pseudoarthrisis. There also may be some delaying in sexual maturation. There are many more learning disabilities and optic problems that may develop throughout their life. Neurofibromatosis 2 has symptoms that usually develop much later in life compared to NF1. Most people are diagnosed with NF2 between the ages of 14 and 20. There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tum...