Summary about Disease
Neurofibromatosis Type 2 (NF2) is a genetic disorder characterized primarily by the development of noncancerous tumors called vestibular schwannomas on the nerves responsible for hearing and balance (eighth cranial nerve). These tumors often lead to hearing loss, tinnitus (ringing in the ears), and balance problems. Other types of tumors, such as meningiomas (tumors of the membranes surrounding the brain and spinal cord) and ependymomas (tumors of the spinal cord), may also develop in individuals with NF2. NF2 is a progressive condition, meaning that the tumors tend to grow over time, leading to increasing symptoms and potential neurological complications.
Symptoms
Symptoms of NF2 vary depending on the size, location, and number of tumors. Common symptoms include:
Hearing loss: Often gradual and can affect one or both ears.
Tinnitus: Ringing, buzzing, or other noises in the ears.
Balance problems: Dizziness, unsteadiness, and difficulty walking.
Headaches: Can be caused by tumors pressing on the brain.
Facial weakness or numbness: Due to tumors affecting the facial nerve.
Vision problems: Cataracts, blurred vision, or double vision.
Seizures: Less common, but can occur.
Skin tumors: Plaques or subcutaneous tumors
Causes
NF2 is caused by mutations in the NF2 gene, which is located on chromosome 22. This gene provides instructions for making a protein called merlin (also known as schwannomin). Merlin acts as a tumor suppressor, meaning it helps to regulate cell growth and prevent tumors from forming. Mutations in the *NF2* gene disrupt the production or function of merlin, leading to uncontrolled cell growth and the development of tumors. NF2 is typically inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder. In about 50% of cases, the mutation is spontaneous (de novo) and occurs for the first time in the affected individual.
Medicine Used
There is no cure for NF2, and treatment focuses on managing symptoms and controlling tumor growth. Treatment options may include:
Surgery: To remove or debulk tumors, especially vestibular schwannomas. Microsurgery, stereotactic radiosurgery and endoscopic are the main surgical options.
Stereotactic radiosurgery (e.g., Gamma Knife): To target and shrink tumors.
Chemotherapy: Rarely used, but may be considered in some cases for aggressive tumors.
Bevacizumab (Avastin): A targeted therapy that can help reduce the size of some tumors by inhibiting blood vessel growth. It can improve hearing in some patients.
Hearing aids or cochlear implants: To improve hearing.
Physical therapy: To help with balance problems and other motor impairments.
Pain medication: To manage headaches and other pain.
Is Communicable
No, Neurofibromatosis Type 2 (NF2) is not a communicable disease. It is a genetic disorder caused by mutations in the NF2 gene. It cannot be spread from person to person through any means.
Precautions
Since NF2 is a genetic disorder, there are no specific precautions to prevent it in individuals who are not genetically predisposed. However, for individuals with NF2 or at risk of inheriting it:
Genetic counseling: For families with a history of NF2, genetic counseling can help assess the risk of passing the condition on to future generations.
Regular monitoring: Individuals with NF2 should undergo regular medical evaluations, including hearing tests, neurological exams, and MRI scans, to monitor tumor growth and detect any new tumors early.
Prompt treatment: Early diagnosis and treatment of tumors can help to minimize symptoms and prevent complications.
Avoidance of head trauma: While not proven, some experts suggest avoiding activities that could lead to head trauma.
Management of symptoms: Focus on managing symptoms and improving quality of life through therapies and supportive care.
How long does an outbreak last?
NF2 is not an "outbreak"-type illness. It is a chronic genetic disorder. Tumors grow over time, and symptoms can worsen or change throughout a person's life. There is no defined "outbreak" period with a specific duration.
How is it diagnosed?
NF2 is diagnosed based on clinical criteria and genetic testing. Diagnostic criteria include:
Bilateral vestibular schwannomas (tumors on both eighth cranial nerves)
Family history of NF2 plus either a unilateral vestibular schwannoma or any two of the following: meningioma, glioma, schwannoma, or cataract.
Unilateral vestibular schwannoma plus any two of the following: meningioma, glioma, schwannoma, or cataract.
NF2 gene mutation confirmed through genetic testing. Diagnostic tests may include:
MRI scan: To detect tumors in the brain and spinal cord.
Hearing tests: To assess hearing loss.
Neurological exam: To assess nerve function and identify any neurological deficits.
Eye exam: To check for cataracts or other eye problems.
Genetic testing: To confirm the presence of an NF2 gene mutation.
Timeline of Symptoms
The timeline of symptoms varies greatly among individuals with NF2. Some people may develop symptoms in childhood or adolescence, while others may not experience symptoms until adulthood. The progression of symptoms is also variable. Some general timelines observed:
Childhood/Adolescence: Often initial signs are hearing loss, sometimes balance issues, or skin tumors.
Early Adulthood: Vestibular schwannomas may be detected; hearing loss/balance issues become more pronounced.
Middle/Late Adulthood: Symptoms may stabilize, progress, or new tumors may develop. Neurological symptoms may worsen. It's important to remember that this is just a general guide. Each individual's experience with NF2 is unique.
Important Considerations
Multidisciplinary care: Management of NF2 requires a multidisciplinary team of specialists, including neurologists, neurosurgeons, audiologists, ophthalmologists, geneticists, and other healthcare professionals.
Individualized treatment: Treatment plans should be tailored to each individual's specific needs and circumstances, taking into account the size, location, and growth rate of tumors, as well as the individual's overall health and preferences.
Psychological support: Living with NF2 can be challenging, and psychological support, such as counseling or support groups, can be helpful for individuals and families affected by the condition.
Clinical trials: Individuals with NF2 may consider participating in clinical trials to evaluate new treatments and therapies.
Continued research: Research into NF2 is ongoing, with the goal of developing more effective treatments and ultimately finding a cure for the condition.