Neurofibromatosis Type 2 Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Neurofibromatosis type 2 is a genetic disorder that causes benign tumors to appear along the nerves. Generally, the tumor is not just one, but many.
The most common type of neurofibromatosis type 2 is an acoustic neuroma or vestibular schwannoma. This tumor grows on the auditory nerve which is responsible for delivering information to the brain.
Cases of type 2 neurofibromatosis are rare, especially when compared to cases of type 1 neurofibromatosis. It is estimated to only occur in 1 in 33,000 people worldwide.
Symptom
In neurofibromatosis type 2, tumors generally appear in the nerve fibers that play a role in hearing and balance. Therefore, the symptoms that often appear are symptoms of hearing and balance disorders, in the form of:
- progressive hearing loss
- ringing ears
- Impaired standing and walking, especially in the dark
Reason
Under normal circumstances, the neurofibromatosis type 2 gene is responsible for making proteins that are useful for nerve cell growth. However, in neurofibromatosis type 2, this gene does not function properly, instead it causes tumor growth in nerve tissue.
This genetic disorder is passed from parent to child. If there is one parent who has this disease, then there is a 50% chance that their child will also have type 2 neurofibromatosis.
Diagnosis
If someone is suspected of having type 2 neurofibromatosis, the doctor will confirm this by carrying out several examinations, namely:
- MRIs. An MRI examination is done to see if there are tumors in the nerve fibers in the ear, brain and spinal cord.
- Hearing function check. This examination is carried out to determine whether there is hearing loss experienced by the patient.
- Biomolecular examination. To confirm the disease, a biomolecular examination is carried out to see whether there is a genetic disorder.
Treatment
Until now there is no treatment that can completely cure neurofibromatosis type 2. Most tumors can be removed surgically. However, removing this tumor carries risks, such as more severe hearing loss or facial muscle weakness.
Therefore, not all cases of neurofibromatosis type 2 can be operated on. To treat hearing loss experienced by people with neurofibromatosis type 2, hearing aids can be given.
Prevention
There’s nothing that can completely prevent neurofibromatosis type 2. However, if one of the husband and wife suffers from this disease, then there is a possibility that their children will also experience it.
Early detection of type 2 neurofibromatosis in the fetus can be done during pregnancy by taking amniotic fluid and carrying out a biomolecular examination of the fluid.