Neurofibromatosis type II
Neurofibromatosis type II (pronounced: neuro-fibroma-tosis type two), often abbreviated as NF2, is a genetic disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with NF2 are called Vestibular schwannomas, which develop along the nerves leading to the inner ear.
Etymology
The term "Neurofibromatosis" is derived from three words: "neuro" meaning nerve, "fibroma" referring to a fibrous or connective tissue tumor, and "osis" indicating a condition or disease. The "type II" designation distinguishes this condition from Neurofibromatosis type I, another form of the disorder with different symptoms and genetic causes.
Symptoms
Symptoms of NF2 can include hearing loss, ringing in the ears (Tinnitus), poor balance, and problems with vision. These symptoms are primarily due to the growth of vestibular schwannomas, but other types of tumors can also occur.
Causes
NF2 is caused by mutations in the NF2 gene, which provides instructions for making a protein that suppresses the growth of tumors. When this gene is mutated, the protein is not produced correctly, leading to the growth of tumors.
Diagnosis
Diagnosis of NF2 is typically based on clinical criteria, including the presence of vestibular schwannomas, other types of tumors, or specific skin abnormalities. Genetic testing can also be used to identify mutations in the NF2 gene.
Treatment
Treatment for NF2 can involve surgery to remove tumors, radiation therapy, and medications to control symptoms. The specific treatment plan will depend on the size and location of the tumors, as well as the patient's overall health.
Related Terms
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