This rare genetic disorder can affect your nerves and cause tumors on the brain and spinal cord that may impact hearing, vision, and balance. Proper treatment and regular monitoring can help manage symptoms, spot potential complications, and improve quality of life.

Neurofibromatosis (NF) is a genetic disorder that causes tumors to develop in the brain, spinal cord, and nerves. The condition occurs as a result of a gene abnormality.

There are two main types of NF, both of which cause tumor growth in various areas of the body:

  • neurofibromatosis 1 (NF1) is the more common type, which causes tumors to form in various tissues and organs of the body. This leads to skin problems and bone deformities.
  • neurofibromatosis 2 (NF2) is rarer, and it causes tumors to develop on the brain and spinal nerves. This leads to hearing and balance issues.

A third type, called schwannomatosis, is a related but distinct disorder.

Although most tumors caused by NF are not cancerous, they can still be dangerous and impact your quality of life.

NF2 and tumors

NF2 causes tumors to grow on nerves in the brain and spinal cord. These tumors may develop during childhood, adolescence, or early adulthood.

NF2 tumors typically grow along the nerve that connects your inner ear to your brain. They can also grow on the membrane that covers the brain and spinal cord. Based on the location of the tumors, this can lead to issues with hearing, vision, or balance.

NF2 and genetics

NF2 occurs when there’s a mutation in the NF2 gene. Since it’s a genetic condition, the disorder can be passed down in families. But this isn’t always the case.

Only about half of those who have NF2 inherited the disease from a parent. The other half of people with NF2 develop it from a spontaneous gene mutation.

Once the mutation occurs, the condition can then be passed down from generation to generation. A parent has a 50% chance of passing the gene that causes NF2 to each child.

The symptoms of NF2 can occur at any age, but typically appear during adolescence or early adulthood. They can vary in number and severity depending on the exact location of the tumors.

Common symptoms of NF2 may include:

  • ringing in the ears
  • hearing loss
  • problems with balance
  • eye issues, like cataracts
  • numbness or weakness in the arms, legs, or face

See your doctor for an examination if you have any of these symptoms. They can be symptoms of other conditions as well, so an accurate diagnosis is essential.

Doctors use a combination of approaches to confirm an NF2 diagnosis.

The doctor will ask about your medical history and any symptoms you’re experiencing. You’ll discuss your family history, especially if NF2 runs in your family. The doctor will also look for any visible signs of NF2.

A doctor will also run a series of tests to check for NF2, including:

  • genetic testing for NF2 mutations
  • magnetic resonance imaging (MRI) to look for tumors on the brain and spinal cord
  • hearing tests to check for hearing loss related to tumor location
  • eye exams to look for cataracts or other abnormalities related to NF2

The doctor will then use findings from your medical history and test results to determine an NF2 diagnosis.

There’s no cure for NF2. However, the right treatment and management plan can help you live well with the condition.

Regular checkups and monitoring are important for people with NF2. This way, any potential complications can be caught and treated early. This can include routine:

  • physical exams
  • MRIs of the brain and spine
  • neurological testing
  • hearing tests
  • eye exams with an ophthalmologist (eye doctor)

NF2 treatment can include:

  • watchful waiting, where doctors monitor tumors for potential problems over time
  • surgery, where tumors that cause issues like hearing loss, pain, or pressure are removed
  • radiation, which can be used to shrink or control tumor growth
  • therapeutic support services and devices, which can include physical therapy and occupational therapy to help with balance and movement, or hearing aids to help with hearing loss

Clinical trials

Currently, no medications have been approved for treating NF2. However, ongoing clinical trials are looking at ways to treat the condition.

A clinical trial involves testing cutting-edge treatments for a specific medical condition. Participants are closely monitored for any adverse side effects. These trials aren’t appropriate for everyone, but may be helpful for some people with NF2. Ask your doctor whether participation in a clinical trial may be beneficial for you.

Neurofibromatosis 2 (NF2) is a rare genetic disorder that causes noncancerous tumors to grow on the brain and spine. This often leads to hearing loss, balance problems, and hearing issues, due to the location of the tumors.

While there’s no cure for NF2, routine monitoring combined with proper treatment can help manage symptoms, spot potential complications early, and improve quality of life.