NF2-related schwannomatosis (NF2-SWN) is a genetic condition that leads to the growth of noncancerous tumors on nerves in the brain and spinal cord. Affecting about one in every 25,000 people, it presents unique challenges, but our community is here to provide the support and resources you need on your journey.
One in 25,000 people are born with NF2-Related schwannomatosis.
Signs and Complications of NF2-SWN?
Symptoms of NF2-SWN often appear during the teen years or early twenties, but they can start at any age. The most common tumors are called vestibular schwannomas, which grow on the nerve that connects the inner ear to the brain. This can lead to a range of symptoms.
Below are SOME of the complications that may occur in NF2-SWN. Explore our library to learn more.
Affecting nearly 99% of patients, these tumors grow on the hearing and balance nerves, causing gradual or sudden hearing loss, tinnitus, and vertigo.
Tumors can affect the facial nerve, leading to weakness, twitching, or numbness in facial muscles, making it difficult to blink or smile.
These are benign tumors on the membranes of the brain or spinal cord, which can cause increased intracranial pressure, headaches, seizures, and spinal cord compression.
Early-onset cataracts occur in many patients, causing blurred vision
Schwannomas on other nerves (peripheral nerves) can lead to pain, numbness, or weakness in the arms and legs.
Damaged balance nerves and spinal tumor progression can lead to severe gait instability.
The Genetic Cause of NF2-SWN
NF2-SWN is caused by a mutation in the NF2 gene on chromosome 22. This gene is responsible for creating a protein called merlin, which works as a tumor suppressor to prevent cells from growing out of control. When the gene is mutated, merlin can’t do its job, allowing tumors to form.
About half of the people with NF2-SWN inherit the condition from a parent. For the other half, it results from a new, spontaneous mutation in people with no family history of the disorder.
Resources for Your Journey
Navigating an NF2-SWN diagnosis can feel overwhelming, but you don’t have to do it alone. A great place to start is our NF2-SWN Action Group (NF2ACT), a committee of people with direct experience with NF2-SWN. Please contact us to get connected. We also recommend the Facebook group NF2 Crew.