Neurofibromatosis type 2 (NF2)
Overview
Neurofibromatosis type 2 (NF2), also known as NF2-related schwannomatosis, is a rare genetic condition where non-cancerous tumours grow on nerves in your brain, inner ear and spinal cord. There’s currently no cure, but treatment can help manage your symptoms.
Symptoms
Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. These tumours grow slowly and cause symptoms such as: hearing lossringing or buzzing in your ears (tinnitus)balance problems You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headachesfeeling sick (nausea) or being sick (vomiting)fits (seizures)hearing lossblurred vision and vision lossweakness or lack of movement in your faceweakness, numbness or tingling in your hands and feet (peripheral neuropathy)lumps or marks on your skin that are sometimes smooth and shiny The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. Children with NF2 often have problems with their eyes, such as asquint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts). Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children.
Causes
Neurofibromatosis type 2 (NF2) is caused by an altered gene. Sometimes the altered gene is passed on to a child by one of their parents (inherited), but sometimes you can be born with it even if your parents do not have the altered gene. If you have NF2, there's a 1 in 2 (50%) chance of passing the affected gene on to any child you have.
Treatment
There’s currently no cure for neurofibromatosis type 2 (NF2), but there are treatments that can help manage your symptoms. Depending on your symptoms, treatments for NF2 include: hearing aids or cochlear implants(a cochlear implant is a small device that stimulates the nerve that sends sound signals to your brain)medicine that can stop tumours growing and sometimes improve hearingsurgery to remove tumours that are at risk of causing problemsusing a beam of radiation to treat small tumours or pieces of a larger tumour that are left after surgery (radiotherapy) Most people with NF2 will need surgery at some point during their life to remove tumours from their inner ear, brain or spinal cord.