What is Neurofibromatosis?
Neurofibromatosis is a rare genetic neurological disorder that leads to benign tumors of the nerves and growths in other body parts. That Causes growth and developmental disorders of the nerve cell tissue. This disorder can be of two types: NF1 or Neurofibromatosis type 1 and NF2 neurofibromatosis type 2.
NF1 is the most common type and is also called von Recklinghausen NF or Peripheral NF. People who suffer from this condition have learning disabilities as it can cause tumors on the brain. NF2 is called bilateral acoustic NF and is not as common as NF1 and Causes loss of hearing.
People who have NF1 have the following Symptoms:
- Many pigmented spots on the surface of the skin
- The neurofibromas are usually benign and can appear on, under, or deep within the skin. In some rare cases, it can become cancerous or malignant.
- One or many freckles in the groin or armpit. Small growth in the iris of the eye which does not affect eyesight.
- Tumors on the optic nerve leading to problems with eyesight
- Bone deformities including twisted spine
- Pain in the nerve-related area
Symptoms of NF2
- The weakness of the face muscles
- Hearing loss
- Poor balance and uncoordinated working
- Cataracts at an early age
Neurofibromatosis Risk Factors
It is a genetic disorder and hence there are no controllable Risk Factors as opposed to other neurological tumors. The major Risk Factor for acquiring this disorder is having a parent who has this issue. More than half of the NF1 and NF2 conditions are passed from parent to child. What is to be noted here is that though there are no other Risk Factors other than genetics, NF1 and Nf2 can lead to other neurological conditions like:
- Developing glioma, meningioma, or schwannoma which are tumors on various parts of the body.
- People with NF2 have a high likelihood of spinal cord ependymoma, vestibular schwannoma, and meningioma.
This disorder is mostly passed on through genes but many neurologists have seen that those Diagnosed have no family history. Hence it is believed that it can happen due to gene mutation and passed onto future generations.
NF1 is caused due to mutation in a gene that controls the production of a protein called neurofibromin 1. When this gene which is a tumor suppressor gets mutated for reasons unknown it results in disorders. It is also caused when it is inherited from parents
NF2 also results due to gene mutations and inheritance from parents. It happens due to the mutation of a different gene called merlin or neurofibromin 2. This gene is also a tumor-suppressing gene and results in disorders. The reason for gene mutation is still unknown.
A Neurofibromatosis doctor will order a test for:
NF1 if any of the 2 is seen:
- 5 or more pigmented, flat spots or more than two neurofibromas, freckles in the groin or armpit, two or more Lisch nodules, a tumor of the optic nerve, a parent, or relative with NF1 or bony lesions.
For NF2 Diagnosis
- Tumors on the balance and hearing nerves, family history of NF2, multiple meningiomas, cataract at a young age, or glioma.
The Neurofibromatosis test includes:
- Physical exam
- Medical history of patient and family
- MRI, CT scans, X-rays, Biopsy
- Gene testing
- Eye test
- Hearing and balance tests
In most of the Neurofibromatosis Diagnosis, the tumors are benign and rarely become malignant. A third of the patients do not even have Symptoms. It is recommended that you meet a neurologist if you know a parent or a relative who has this condition.
There is no specific Neurofibromatosis cure, and most of the Treatments focus on providing relief from Symptoms or controlling it. Some of the Treatments like pigmented spots do not need any Treatment. When a Neurofibromatosis doctor decides it is necessary to Treat the conditions, the options are
- Medicine for Neurofibromatosis for pain
- Surgery for tumors, cataract, scoliosis
- Chemotherapy and radiation for cancerous tumors
- Physical therapy and counseling
The Treatment depends on the type of NF and the severity of the Symptoms. Often NF1 is mild and hence most people can lead normal lives. For people with NF2 Treatment depends on age, location of tumors, and the number of tumors. Contact neurologist at Cure.fit, who offers the best care and Treatment for getting relief from NF1 or NF2 Symptoms.
Both types of Neurofibromatosis NF1 and NF2 happen due to gene mutations and genetic inheritance. As of now, there is no way to Prevent this condition from happening. When a parent has an abnormal gene there is a 50-50 chance of passing this to their children. The only way to know if the fetus has this defective gene is to conduct tests during pregnancy.
For those who developed this condition during their adolescence managing the Symptoms is the only way out. It includes going to therapy and counseling. Others with a genetic predisposition of this condition have to be watchful of the Symptoms and undergo periodic tests as suggested by your doctor.