Neurofibromatosis is a dreaded disease, It is the general name for a number of genetic conditions that cause tumours to grow along nerves.Tumours are abnormal tissue growths. In neurofibromatosis, the tumours are usually non-cancerous (benign).
Almost everyone with NF2 develops tumours on the nerves responsible for hearing and balance. These typically cause symptoms such as:
NF2 is caused by a genetic mutation, which is a permanent change in the DNA sequence that makes up a gene. As a result, the growth of nerve tissue isn't properly controlled.
In half of all cases of NF2, the genetic mutation is passed from a parent to their child. In other cases, the genetic mutation appears to develop spontaneously (sporadic mutation).
Unfortunately there's currently no cure for NF2.
Treatment involves regular monitoring and treating any problems as they occur.
Surgery can be used to remove most tumours, although it carries a risk of causing problems, such as complete deafness or facial weakness. Therefore, the risks and potential benefits need to be carefully considered before treatment.
Most people with NF2 eventually develop significant hearing loss and often benefit from learning to lip read or using a hearing aid. Special implants can sometimes be inserted to improve a person's hearing.
NF2 tends to get worse over time, although the speed at which this happens can vary considerably. However, most people with NF2 eventually lose their hearing completely, and some people require a wheelchair or other type of mobility device.
Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.