Neurofibromatosis Type II (NF2) is a rare genetic disorder characterized by the development of noncancerous tumors, known as schwannomas, mainly affecting the nerves associated with hearing and balance. These tumors primarily grow on the auditory nerves, also called the vestibular or eighth cranial nerves, which are responsible for transmitting sound and maintaining balance.
NF2 is caused by a genetic mutation in the NF2 gene, which is responsible for producing a protein called merlin or schwannomin. This protein acts as a tumor suppressor, regulating cell growth and division. However, in individuals with NF2, mutations in the NF2 gene lead to the production of an abnormal, non-functional protein, allowing the growth of tumors.
The symptoms of NF2 can vary widely but commonly include hearing loss, tinnitus (ringing in the ears), imbalance or difficulty with coordination, facial weakness or numbness, and vision problems. Other associated features can include cataracts, skin abnormalities, and benign tumors in various parts of the body.
Diagnosis of NF2 involves a thorough medical examination, evaluation of symptoms, family history analysis, and genetic testing to identify mutations in the NF2 gene. There is currently no cure for NF2, but treatment focuses on managing symptoms and complications. Options may include surgical removal of tumors, radiation therapy, auditory rehabilitation, and physical therapy.
Due to the variability in symptoms and disease progression, individuals with NF2 often require multidisciplinary care from neurologists, audiologists, surgeons, and other healthcare professionals to optimize their quality of life and manage the condition effectively.
