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Detailed NF Info

Neurofibromatosis is pronounced neuro-fibroma-tosis and is commonly referred to as NF.

Neurofibromatosis (NF) is an umbrella name for three separate genetic disorders that share a common manifestation - tumour growth in the tissues that surround nerves. NF can result from a spontaneous genetic alteration or is inherited from one or both parents. While most of the tumours are benign, they can occasionally become malignant. Symptom manifestations and their severity vary greatly in all three forms of NF, making each form a distinct and complex genetic disorder. NF is equally prevalent across the world and is not limited by any gender, racial, social or economic boundaries.

The three Neurofibromatoses are chronic, progressive disorders that pose different challenges at different stages of life. Living with a lifelong disorder requires a person to manage not only the physical symptoms, but to find ways to cope with new circumstances that may impact psychological, social, economic, and quality-of-life issues. These psychosocial issues affect not only the individual with Neurofibromatosis, but also family members and other loved ones.

The Three Types of Neurofibromatosis

• Neurofibromatosis Type 1 (NF1)
  The most common genetic disorder affecting approximately 1 in 3,000 to 4,000 births
• Neurofibromatosis Type 2 (NF2)
  A less common form, affecting approximately 1 in 40,000 births
• Schwannomatosis
  Appears to occur as often as NF2, affecting approximately 1 in 40,000 births

NF Type 1

Neurofibromatosis Type 1 (NF1) is the most common single gene disorder to affect the human nervous system and affects approximately one in 3,000 to 4,000 births. NF1 causes developmental changes in the nervous system, skin, bones, and other tissues. Half of the cases of NF1 result from a spontaneous genetic mutation, meaning there is no known cause, while the remainder of cases are inherited from one or both of the parents. NF1 occurs with equal frequency in males and females and has been identified in all ethnic, social and economic groups around the world.

NF1 affects each person differently. Some people are quite mildly affected and may not experience any impacting symptoms of the disorder while others are more severely affected and require increased medical treatment. Each individual with NF1 - even those in the same family - can be affected in a completely different manner. Overall, it is estimated that about half of the people with NF1 are moderately to severely affected. While it is very unlikely that any one person diagnosed with NF1 will experience all of the associated complications, it is difficult to predict the severity or progression of the disorder in any individual case.

Download Fact Sheet for more information on NF1

NF Type 2

Neurofibromatosis Type 2 (NF2), also called Bilateral Acoustic Neurofibromatosis, is very different from NF1 and is a much more rare genetic disorder, affecting about one in 40,000 births. Alterations in the NF2 gene cause Neurofibromatosis Type 2. The onset of NF2 is unique to each individual. Some may develop their first symptoms during their late teenage years or in their early 20’s. A few individuals develop symptoms in childhood, while others live without any signs of the disorder until their 40’s.

NF2 is characterized by benign (non-cancerous) tumours that grow on the cranial and spinal nerves. There are few visible signs of NF2; however, there are symptoms that can indicate the presence of the disorder. NF2 often causes slow-growing, benign tumours to grow along the eighth cranial nerve, which leads from the brain to the inner ear. These tumours are called acoustic neuromas or vestibular schwannomas. The most common early symptoms are hearing loss, ringing in the ears (tinnitus) and loss of balance caused by tumours growing on the nerve from the ear to the brain. If tumours are growing in other parts of the brain, signs and symptoms vary according to location and can include seizures, changes in vision or sensation and fluid build up in the brain.

Download Fact Sheet for more information on NF2

Schwannomatosis

Schwannomatosis is a rare form of NF that has only recently been recognized. This disorder appears to occur as often as NF2 approximately one in 40,000 births. Individuals with Schwannomatosis develop multiple schwannomas on cranial, spinal and peripheral nerves, but they do not develop vestibular tumours and do not lose their sense of hearing. Schwannomas are tumours that come from the cells that form a protective sheath around the body’s nerve fibers. They are usually benign and when possible, are surgically removed. They usually appear as a single tumour and rarely will they develop into multiple tumours. Affected individuals usually have much greater problems with pain than with neurological disability, although as with all forms of NF, schwannomatosis may vary greatly between patients. Many individuals with schwannomatosis go several years before the source of their pain is realized because they have few or no neurological symptoms.

Download Fact Sheet for more information on Schwannomatosis

The Future for NF Patients

There is no cure for NF and to this day, the Canadian medical community is largely uninformed and has difficulty making an inaccurate and timely diagnosis. Treatment strategies for NF are still in the trial stages. Our goal is to bring awareness and education to the medical community so that together, we can face the future of Neurofibromatosis.

It is difficult to predict the severity or progression of NF in any individual case. It is important to recognize that despite varying challenges, most people with NF can live long and rewarding lives.