Type II Neurofibromatoses, also known as NF2, is a genetic disorder characterized by the growth of noncancerous tumors in the nervous system. It is a type of neurofibromatosis, which is a group of conditions that cause tumors to form in the nerves and other tissues of the body. NF2 specifically affects the nerve tissues that control hearing and balance, often leading to hearing loss and problems with balance.
The condition is caused by mutations in the NF2 gene, which is responsible for producing a protein called merlin that helps regulate cell growth and division. When the NF2 gene is mutated, it disrupts the normal function of merlin, resulting in the development of tumors.
Symptoms of NF2 typically emerge in late adolescence or early adulthood, and the severity and progression of the disease can vary widely between individuals. Common signs include hearing loss, ringing in the ears (tinnitus), problems with balance and coordination, facial weakness or paralysis, and vision problems. In some cases, the tumors can also grow on the spinal cord or other nerves, leading to additional complications.
There is currently no cure for NF2, but treatment options focus on managing symptoms and preventing further complications. These may include surgical removal of tumors, radiation therapy, hearing aids or cochlear implants for hearing loss, and physical therapy for balance and coordination issues. Genetic counseling is also recommended for individuals with NF2, as the condition can be passed down through families.
