Neurofibromatosis, also known as NF, is a genetic disorder that affects 1 in every 3,000 people. There are three types of NF: NF1, NF2, and schwannomatosis. Neurofibromatosis type 2 (NF2) is much less common than NF1, affecting about 1 in 25,000 people worldwide. The disorder is characterized by the development of benign tumors, called vestibular schwannomas (formerly called acoustic neuromas), on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). These tumors affect both ears, often leading to partial or complete hearing loss. People with NF2 may also develop other types of benign brain or spinal tumors. The disorder can also cause the development of cataracts or other eye findings, potentially compromising vision. Most people develop symptoms in the late teen and early adult years, although about 10% of people develop symptoms during late childhood.
For information on the genetics of NF, or to learn more about segmental or mosaic NF, click here.
The appearance of the most common signs of NF2 usually vary from person to person, but most begin experiencing their first symptoms during the late teenage years or early 20s. Nerve damage for individuals with NF2 may result in some, but not all, of the following:
NF2 is typically diagnosed by a neurologist or geneticist based on the presence of clinical findings documented during a clinical examination, MRI imaging, and a medical history discussion. Genetic testing for NF2 is available, but the condition cannot always be diagnosed through a blood test since the genetic mutation is sometimes only detectable in affected tumor tissues.
The diagnostic criteria for NF2 include:
Once someone has been diagnosed with NF2, a number of tests may be helpful in defining the nature and progression of the disorder. These tests include the MRI (magnetic resonance imaging) scan and an audiometry, or hearing test. Often times, an ophthalmological (eye) exam is recommended. Genetic testing for NF2 can be done, but is a personal choice. It can be used to establish or confirm a diagnosis of NF2 when the situation is uncertain. A genetics healthcare provider or genetic counselor can help you make this decision.
At this time, possible treatments available for NF2-associated tumors include surgery, chemotherapy, and radiation therapy. However, the research being funded by the Children’s Tumor Foundation and its partners is ongoing to identify improved candidate drug therapies that could lead to further treatments for NF2, such as those that enable the shrinking or stopping of the growth of tumors associated with NF2.
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NF is one of the world’s most common genetic disorders. But it takes many forms, and can be hard to diagnose and treat.
Research is the key. And the NF Registry is the key to research. If you have been diagnosed with any form of neurofibromatosis (including NF1, NF2, and schwannomatosis), or if your child has NF, unite with thousands of others with NF and join the NF Registry today.