How do I know if I have neurofibromatosis type 2?

Symptoms of neurofibromatosis type 2

hearing loss that gradually gets worse over time. hearing ringing or buzzing in the ears (tinnitus) balance problems – particularly when moving in the dark or walking on uneven ground.

When do NF2 symptoms start?

NF2 Symptoms

Although the abnormal changes in the NF2 gene may be present since birth, the symptoms of NF2 are most common in people in their late teens and early 20s. People with a mild form of NF2 might not notice any symptoms until age 40 or later.

What does NF2 look like?

They may have café-au-lait spots, which are light brown pigmentation, the color of “coffee with milk”. This feature is similar to those individuals with Neurofibromatosis Type 1, but people with NF2 usually have fewer café-au-lait spots than people with NF1.

How common is NF2?

The estimated incidence of NF2 is 1 in 33,000 people worldwide. The symptoms of this disease typically become apparent during puberty or early adulthood. The average age of onset is 18 to 24 years.

Is there a genetic test for neurofibromatosis type 2?

Advanced Genetic Testing for NF2 at the UAB Medical Genomics Laboratory. Based on a small blood sample from the affected individual, genetic testing can diagnose NF2 with 90% sensitivity by sequencing a person's NF2 gene to identify mutations.

Neurofibromatosis Type 2: Benign Tumors of the Nervous System

How can you confirm neurofibromatosis?

Imaging tests.

X-rays, CT scans or MRIs can help identify bone abnormalities, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas. Imaging tests are also often used to monitor NF2 and schwannomatosis.

Does everyone with NF2 go deaf?

An estimated one in 25,000 people is born with NF2, a hereditary tumor syndrome in which virtually everyone progresses to deafness because of vestibular schwannomas — tumors growing on the nerves responsible for hearing.

Can neurofibromatosis show up later in life?

They can be present at birth or may not become noticeable for many years. Although some cutaneous neurofibromas arise in childhood, most start appearing during or after the teenage years.

What do neurofibromas look like at first?

Typically, people with NF1 start to see neurofibromas appear during their teens. The neurofibromas grow slowly and may look like a pimple at first. You won't wake up one morning, or next year, and be covered with neurofibromas. They develop gradually over a period of many years.

Do café-au-lait spots always mean neurofibromatosis?

Can you have café-au-lait spots without having neurofibromatosis? Yes. It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1).

Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

Can you live a normal life with NF2?

However, most people with NF2 will eventually lose their hearing and some people will require a wheelchair or other type of mobility device. Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

Can you have neurofibromatosis and not know?

What Are the Signs & Symptoms of Neurofibromatosis Type 1? Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called café-au-lait ("coffee with milk") spots because of their color.

Can multiple café-au-lait spots be normal?

The spots are usually present at birth but may develop later in life. Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.

What part of the body does neurofibromatosis affect?

Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin.

Is there a blood test for neurofibromatosis?

A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don't have an identifiable mutation. Testing can now also be performed for SPRED1.

Can NF2 skip a generation?

Highlights. Neurofibromatosis type 2 (NF2), is a rare genetic condition, that does not skip generations. NF2 is a genetic, autosomal dominant condition. All individuals born with NF2 will develop tumors.

Where do café-au-lait spots appear?

Cafe au lait (ka-FAY o lay) birthmarks are flat areas of darkened skin, anywhere from tan to dark brown. They are permanent and very common. They can occur anywhere on the body, and the size increases as the child grows.

Is NF2 a disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability.

Does NF2 cause blindness?

The NF2 condition is rare; the rare condition includes tumors and rare eye problems. The eye problems are uncommon enough that twenty-percent (20%) of vision loss of individuals with NF2 with a diagnosis of ocular abnormalities.

Is neurofibromatosis serious?

The tumors in these disorders are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.

Does neurofibromatosis worsen with age?

Unfortunately, NF1 can worsen with time, resulting in new growths over the body that cause major psychological and cosmetic issues.

How do you get rid of neurofibromatosis?

Plastic surgery is usually needed. The surgeon cuts the neurofibromas out of the body before resealing the skin. Depending on the size and location of the neurofibromas, they may be able to be treated with laser surgery or an electric current (electrodessication) instead.

Are neurofibromas painful?

A genetic disorder such as neurofibromatosis (NF) can cause multiple neurofibromas. Most of these tumors do not hurt or cause problems, but some neurofibromas itch or are painful, and some become tumors. Treatment consists of observation and, if necessary, medications or surgical removal.

When do café-au-lait spots appear?

Typically, café au lait spots are present at birth, although they may be difficult to appreciate. A Wood lamp may improve the ability to visualize these faint spots. By the time the child is aged 2-3 years, café au lait macules are clearly visible.