Neurofibromatosis (NF2) is a genetic disorder that affects our nervous system. And this causes the tumor in the spinal cord, nerves and in the brain. People affected by this condition develop non-cancerous tumors along their nerves. The tumors are called neurofibromas. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
Tumors are usually non-cancerous (benign), but they can sometimes become cancerous. Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, cardiovascular and blood vessel problems, loss of vision and severe pain.
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Types of Neurofibromatosis
There are two types of Neurofibromatosis such as –
- Neurofibromatosis type 1 (NF1),
- Neurofibromatosis type 2 (NF2)
NF1 is more commonly occur as compared to the NF2. The NF1 tumor occurs in various tissue and organs of the body and causes skin problem and bone deformities. Signals are often noticeable at birth or immediately after and almost always in accordance with age. Symptoms and sign are often mild to moderate but may vary in severity. But in NF2 causes the tumor to develop in the brain and nerves.
Causes Of NF2:-
The main cause of the tumor is the misprint in a single gene on chromosome 22. The altered gene will be present at but signs are appearing at an early age.
The NF2 gene is located on chromosome 22 and creates a protein called Merlin (also called swainsonine), which suppresses the tumor. The mutated gene causes the loss of Merlin, which leads to uncontrolled cell growth.
It may transfer from parent to child at the time of conception or it may start in a family with no previous history of NF2. About half the people who have NF2 will be the first in their family.
As neurofibromatosis is a genetic problem so if parents have NF gene then the child will have a 50% chance of inheritance of the disease. An individual who has no family history of the condition so maybe in those individual the gene change spontaneously. The cause of NF is a change in a person’s genetic material, known as a genetic mutation.
Symptoms Of The Neurofibromatosis Type 2 –
The Symptoms of NF1 and NF2 are different. The NF2 can occur at any age but it typically occurs during early adulthood. Therefore, they can vary in number and their severity depending on the exact location of the tumors.
Complications of development of tumors may include vision, numbness or weakness in the hands or feet and fluid formation in the brain. Some people with neurofibromatosis type 2 suffered from vision problems or cataracts in one or both eyes, which often begin in childhood.
Common Symptoms of NF2 are –
- Hearing Loss,
- Tinnitus(Ringing in the ear),
- Vision Improvement,
- Numbness and Weakness In the Arm,
- Problem with balance,
People with NF2 develop a tumor that appears on the nerve that connects the ear to the brain also called “schwannomas.” As this tumor is connected to ear so people with NF2 feel some kind of hearing difficulties. The pressure from the tumor on other nerves may also cause a headache and weakened facial muscles.
When to see the doctor
See your doctor if you or your child develop symptoms or sign of neurofibromatosis. Tumors associated with neurofibromatosis often grow on benign and slow motion. Therefore, although it is important to get a diagnosis on time, the situation is not an emergency.
Diagnosis of Neurofibromatosis Type 2 –
For diagnosis, your doctor will do a number of test and examination such as –
1. Audiometry- Doctors usually suggest audiometry. It confirms a tiny tumor in nerves in both NF1 and NF2.
2. MNR test- This test looks at particles and also help in identifying the tumor in various parts of the body.
3. CT scan – The CT scan (Computerised Tomography) uses x-rays to produce cross-section pictures of the head at different angles.
5. Vision Test – Vision testing, and a series of procedures designed to check the structures of the eye for evidence of eye disease or eye problems like age-related macular degeneration, glaucoma, cataracts, NF2 or diabetes.
6. Genetics Test – A genetic test is used to detect if the child of a person has NF2 also has NF1.
Many nervous system tumors are developing slowly but may require treatment at some point. People with NF2 should be assessed at least annually for tumors and hearing formation.
See your doctor if you or your child evolves sign and symptoms of neurofibromatosis. The tumors associated with neurofibromatosis are often gentle and slow-growing. Though it’s necessary to obtain a timely diagnosis, the situation is not an emergency.