How rare is NF2?

How common is NF2? It is estimated that about 1 in 40,000 people has NF2. About 50% of people affected by NF2 do not have any family history of the condition. They have a de novo (new) mutation in the NF2 gene.

What are the symptoms of neurofibromatosis type 2?

Neurofibromatosis type 2 symptoms vary, but almost all people with NF2 develop vestibular schwannomas, benign nerve tumors, in both ears, which can cause:

  • Dizziness.
  • Hearing loss, which may begin as early as the teenage years.
  • Tinnitus (ringing in the ears)
  • Problems with facial expressions.
  • Issues with balance.

What is the difference between NF1 and NF2?

The NF1 gene makes a protein called neurofibromin, which regulates cell division in the nervous system and functions as a kind of molecular brake to keep cells from growing out of control. The gene for NF2 is located on chromosome 22. The NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin).

What is mosaic NF2?

Mosaic Neurofibromatosis type 2 (mosaic NF2) is a term used to describe a situation where the genetic misprint that causes NF2 is present in some rather than all of the body’s cells. People with NF2 develop benign tumours in the brain and spine.

Is NF2 life threatening?

NF1 causes tumors to form in various tissues and organs of the body. This causes skin problems and bone deformities. NF2, on the other hand, causes tumors to develop on the brain and spinal nerves. Although most tumors caused by NF are not cancerous, they can still be dangerous and impair your quality of life.

Can NF2 cause seizures?

Epilepsy Causes for Individuals with Neurofibromatosis Type 2 (NF2) Epilepsy occurs when permanent changes in the brain cause it to be too excitable or irritable. As a result, the brain sends out abnormal signals which might happen once. A single Seizure that does not happen again is not Epilepsy.

Do café-au-lait spots always mean neurofibromatosis?

The cafe-au-lait spots in themselves are harmless. It is not unusual for them to be passed off as mere “birthmarks”. Indeed, anyone can have 1 or 2 cafe-au-lait spots without having neurofibromatosis. The only significance to the cafe-au-lait spot is that it suggests the possibility that a person might have NF1.

What is the life expectancy of a person with NF2?

Tumours that develop inside the brain and spinal cord can place a strain on the body and shorten life expectancy. The average life expectancy for someone with NF2 is 65 years of age.

Does NF2 make you tired?

People with NF2 commonly report fatigue or extreme tiredness. This often follows treatment for a brain tumour and can continue even after you have fully recovered from the surgery. Whilst there is still uncertainty about the exact cause, there are several theories.

Do neurofibromas grow fast?

Benign plexiform neurofibromas may grow rapidly in children and adolescents (Figure3).

Is plexiform neurofibroma malignant?

Plexiform neurofibromas are benign tumors, but they can turn into cancer. When these tumors become cancerous, doctors call them malignant peripheral nerve sheath tumors (MPNST).

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