An insight into the genetic disease Neurofibromatoisis.
This paper discusses Neurofibromatosis (NF) or von Recklinghausen disease, a genetic disease that causes tumors to occur under the skin and throughout the nervous system. It examines how it can occur in both sexes and all ethnic groups, discusses its causes and provides a detailed list of symptoms. It shows how although there is no way is to prevent the fifty percent of all NF cases that occur from gene mutation, inherited NF can be prevented with careful genetic counseling and tests can be performed on the fetus during pregnancy, such as chorionic villus sampling or amniocentesis. The paper provides a long appendix of support groups and further reading material.
“NF-2 affects roughly one in 40,000 persons and is characterized by bilateral tumors on the eighth cranial nerve. These tumors cause progressive hearing loss and can cause pressure damage to neighboring nerves. The damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening (Neurofibromatosis pg). The tumors can also cause weakness of the facial muscles, headache, dizziness, poor balance, and uncoordinated walking. Cataracts, cloudy areas on the lens of the eye, frequently develop at an early age. And as in NF-1, the chance of developing brain tumors is unusually high (Carson-DeWitt pg). As with NF-1, the treatments for NF-2 are aimed at controlling the symptoms. An MRI can reveal small tumors, resulting in early treatment.”