Neurofibromatosis type 2 (NF2)

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.

There's a condition with a similar name called neurofibromatosis type 1 (NF1). This is different to NF2 but more common.

Symptoms of NF2

Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear.

These tumours grow slowly and cause symptoms such as:

• hearing loss
• ringing 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:

• headaches
• feeling sick (nausea) or being sick (vomiting)
• fits (seizures)
• hearing loss
• blurred vision and vision loss
• weakness or lack of movement in your face
• weakness, 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.

NF2 symptoms in children

Children with NF2 often have problems with their eyes, such as a squint, 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.

 See a GP if: 

• you think you might have neurofibromatosis type 2 (NF2)

 Call 112 if: 

• you have a seizure (fit) for the first time
• you have weakness or numbness in your face or down 1 side of your body

How NF2 is diagnosed

If you have symptoms of neurofibromatosis type 2 (NF2) you may be referred to hospital for some tests.

Tests may include:

• hearing tests
• eye tests
• scans, such as a CT scan or MRI scan

Depending on the results, you might need to see a specialist to have an assessment and further tests.

You may see several specialists including a hearing specialist (audiologist), an eye specialist (ophthalmologist) and a gene specialist (geneticist).

Genetic testing

A genetic test is sometimes used to diagnose NF2. If you have a close relative, such as a parent with NF2, you might have this test.

If NF2 is confirmed, the geneticist will be able to give you information about the condition and answer any questions. They’ll also be able to tell you about the chance of any children you have having NF2.

Treatments for NF2

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 hearing
• surgery to remove tumours that are at risk of causing problems
• using 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.

How NF2 affects your life

Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time.

The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life.

Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair.

You'll need ongoing care and support from a range of specialists, such as physiotherapists and hearing specialists. You’ll also have regular appointments and scans to check for any changes in your symptoms.

NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

Causes of NF2

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.

Recording information about you and your condition

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.