NF2

Neurofibromatosis type 2 (also known as NF2) is a genetic disorder that primarily affects the nervous system. It is characterized by the growth of noncancerous tumors in the nervous system, particularly in the vestibular nerves, which transmit sound and balance information from the inner ears to the brain.

Symptoms

The most common early symptoms of NF2 are hearing loss, ringing in the ears (tinnitus), and problems with balance. Other symptoms can include weakness and numbness in the arms or legs, pain, and balance difficulties.

Causes

NF2 is caused by mutations in the NF2 gene. This gene provides instructions for making a protein called merlin, which suppresses the growth of tumors. Mutations in the NF2 gene lead to the production of an abnormal version of the merlin protein that cannot regulate cell growth and division. As a result, tumors (particularly schwannomas) develop in the nervous system.

Diagnosis

Diagnosis of NF2 is based on clinical criteria, including the presence of bilateral vestibular schwannomas, other nervous system tumors, and a family history of the disorder. Genetic testing can also be used to identify mutations in the NF2 gene.

Treatment

There is currently no cure for NF2. Treatment is focused on managing symptoms and preventing complications. This can include surgery to remove tumors, radiation therapy, and medications to control symptoms.

See also

• Neurofibromatosis
• Genetic disorder
• Tumor
• Vestibular nerve
• NF2 gene
• Merlin (protein)
• Schwannoma
• Genetic testing
• Radiation therapy

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