Your Guide to Neurofibromatosis: What It Is, How It Starts, How to Cure It
Neurofibromatosis (NF) is a term that refers to a complex set of separate genetic disorders known as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.
This complex disorder causes
- A mutated NF1 gene causes the loss of neurofibromin. This causes cells to grow in an uncontrolled state.
- The NF2 gene creates merlin which represses
tumorgrowth. But a mutated gene affects the production of merlin, causing uncontrolled cell growth.
- Schwannomatosis occurs when the SMARCB1 and LZTR1 genes mutate.
NF can cause:
NF can cause:
Tumors anywhere in the body (particularly in the brain + spine)
Significant learning disorders
Hearing and vision loss
Types of Neurofibromatosis
Neurofibromatosis type 1 (NF1): The most common form of neurofibromatosis, NF1 affects approximately 1 in 3,000 people. Symptoms of NF1 include brown skin spots (café-au-lait spots), tumors (neurofibromas), eye findings (Lisch nodules or optic pathway gliomas), bone abnormalities and learning issues.
Neurofibromatosis type 2 (NF2): NF2 occurs in about 1 in 25,000 people. Findings of NF2 include tumors along the hearing/balance nerve (vestibular schwannoma, sometimes referred to as acoustic neuroma) typically leading to hearing loss or deafness and balance problems. In addition, individuals with NF2 may have visual issues (cataracts or other eye anomaly) and develop neurologic or functional issues related to different types of tumors in the brain and/or spinal cord.
Schwannomatosis: Schwannomatosis is the least common of the neurofibromatoses and occurs in roughly 1 in 40,000 people. Symptoms of schwannomatosis include benign tumors in many areas of the body (other than the hearing/balance nerves). These tumors often cause pain.
Although symptoms of NF are variable and may not be severe, care for individuals with NF is often complex and requires healthcare providers with NF knowledge and experience. Various types of doctors are often required to care for individuals with NF including specialists in neurology, genetics, surgery, ophthalmology, audiology and more.
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