Neurofibromatosis 2 (NF2)

Written by Jaime Herndon | Published on August 15, 2012
Medically Reviewed by George Krucik, MD

What is Neurofibromatosis?

Neurofibromatosis, also known as NF, is a genetic disorder. This means that an abnormality in your genes is responsible for the disease. There are two types of NF, both of which cause tumor growth and affect multiple systems in the body.

Neurofibromatosis type 1 (NF1) is more common than neurofibromatosis type 2 (NF2). According to the University of Medicine and Dentistry of New Jersey, NF1 occurs in approximately one in 3,000 people, whereas NF2 is found in one in 40,000 people (NMDNJ).

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

NF2 and Tumors

NF2 causes noncancerous tumors to grow on your cranial and spinal nerves. Unlike NF1, NF2 does not typically present any visible symptoms and is rare in children. The tumors caused by NF2 are usually on the eighth cranial nerve. This nerve connects your inner ear to your brain. These tumors are called acoustic neuromas and can cause balance difficulties and hearing loss.

Schwannomas are another kind of tumor that occurs in patients with NF2. These originate from schwann cells, which protect your nerve cells. Spinal cord schwannomas are common in individuals with NF2, and if left untreated, they can cause paralysis.

NF2 and Genetics

Because NF2 is a genetic condition, individuals can inherit the disease, although this is not always the case. According to the National Institute of Neurological Disorders and Stroke, between 30 and 50 percent of cases are caused by a random genetic mutation. Once the mutation occurs, the condition can be passed down from generation to generation (NINDS).

How is NF2 Diagnosed?

To diagnose NF2, your doctor will do a complete physical examination and check you for any hearing loss. Several tests can aid in the diagnosis, including:

  • audiometry (a hearing test that can measure impairment in the eighth cranial nerve)
  • a CT scan
  • balance tests
  • genetic testing
  • an MRI to check for tumors in your head and body
  • vision tests

Symptoms of NF2

There are symptoms of NF2, although they are usually not visible. Symptoms can vary in number and severity, and some individuals are barely affected. If you have any of these symptoms, see your doctor for an examination. These can be symptoms of other conditions as well, so an accurate diagnosis is essential.

Symptoms of NF2 may include:

  • ringing in the ears
  • problems with your balance
  • glaucoma (an eye disease that damages your optic nerve)
  • hearing or vision problems
  • seizures

Treatment Options for NF2

There is no cure for either type of neurofibromatosis. Treatment is not always necessary, but when it is, it is used to treat and control your symptoms.

Regular checkups and monitoring are important for individuals with NF2. This way, any potential complications can be caught and treated early. Physical exams and neurological tests should be conducted at least once a year, along with a hearing test. Annual visits with an ophthalmologist (eye doctor) are also recommended.

Tumor Treatments

If your tumors become too large or start to cause sensory impairment, surgery is a common treatment. Surgery usually requires a team of neurosurgeons and eye, ear, nose, and throat specialists, due to the problematic location of these tumors. These specialists will ensure that the tumor removal is done safely and with as little damage as possible to the surrounding areas.

Stereotactic radiosurgery may be an option to treat some tumors. This technique uses targeted rays of radiation to attack and shrink the tumors.

Depending on the type and location of your tumors, other treatments, such as chemotherapy, may be recommended. If you need treatment, talk with your doctor about your options.

Clinical Trials

Research is being conducted on the genetic aspects of NF, and there may be clinical trials in your area. A clinical trial involves using cutting-edge treatments to address the condition. Participants are closely monitored for any adverse affects. These trials are not appropriate for everyone, but may be helpful for some patients. Ask your doctor whether participation in a clinical trial may be beneficial for you.

Was this article helpful? Yes No

Thank you.

Your message has been sent.

We're sorry, an error occurred.

We are unable to collect your feedback at this time. However, your feedback is important to us. Please try again later.

Article Sources:

More on Healthline

Migraine vs. Chronic Migraine: What Are the Differences?
Migraine vs. Chronic Migraine: What Are the Differences?
There is not just one type of migraine. Chronic migraine is one subtype of migraine. Understand what sets these two conditions apart.
Easy Ways to Conceal an Epinephrine Shot
Easy Ways to Conceal an Epinephrine Shot
Learn how to discreetly carry your epinephrine autoinjectors safely and discreetly. It’s easier than you think to keep your shots on hand when you’re on the go.
Famous Athletes with Asthma
Famous Athletes with Asthma
Asthma shouldn’t be a barrier to staying active and fit. Learn about famous athletes who didn’t let asthma stop them from achieving their goals.
Common Asthma Triggers and How to Avoid Them
Common Asthma Triggers and How to Avoid Them
Learn about some of the most common triggers for asthma, as well as measures you can take to minimize your risk of exposure, symptoms, and flares.
Numbness, Muscle Pain and Other RA Symptoms
Numbness, Muscle Pain and Other RA Symptoms
The symptoms of RA are more than just joint pain and stiffness. Common symptoms include loss of feeling, muscle pain, and more. Learn more in this slideshow.
Advertisement
Advertisement
Advertisement