Neurofibromatosis Type 2 (NF2)
Description
Neurofibromatosis Type 2 (NF2) is a rare genetic disorder that primarily affects the nervous system. It causes the growth of non-cancerous tumors on the nerves, particularly in the brain and spinal cord. These tumors, known as schwannomas, can lead to a range of symptoms, including hearing loss, vision problems, and balance issues. This article will provide a comprehensive understanding of NF2, including its causes, symptoms, diagnosis, management, and strategies for thriving with the condition.
Genes Involved
NF2 is caused by mutations in the NF2 gene, which provides instructions for making a protein called merlin. Merlin is crucial for regulating cell growth and preventing the formation of tumors. Mutations in this gene disrupt this function, allowing tumor growth.
Recognizing the Signs and Symptoms
The symptoms of NF2 vary depending on the location and size of the tumors. Common signs include:
- Hearing Loss: One of the most frequent initial symptoms, often starting in one ear and progressing to both.
- Tinnitus (Ringing in the Ears): May accompany hearing loss.
- Balance Problems: Due to tumors affecting the vestibular system in the inner ear.
- Vision Problems: Can occur due to tumors on the optic nerve.
- Headaches: May arise from tumors pressing on the brain or spinal cord.
- Weakness or Numbness: In limbs or facial muscles, indicating tumor pressure on nerves.
- Facial Deformity: In rare cases, tumors can affect facial nerves, leading to facial asymmetry.
Causes
NF2 is a genetic disorder, meaning it‘s passed down through families. It‘s caused by a mutation in the NF2 gene, located on chromosome 22. This mutation can be inherited from a parent or occur spontaneously (de novo).
Inheritance/recurrence risk
NF2 follows an autosomal dominant inheritance pattern. This means that if one parent carries the NF2 gene mutation, there is a 50% chance that each of their children will inherit the mutation and develop NF2. In cases of spontaneous mutations, the risk of future children inheriting the gene is low.
