Neurofibromatosis Type II (NF2) is a rare genetic disorder characterized by the growth of non-cancerous tumors, or schwannomas, in the nervous system. It is a hereditary condition that is typically inherited through an autosomal dominant pattern, meaning that a person with a parent affected by NF2 has a 50% chance of inheriting the mutated gene responsible for the disorder.
The schwannomas associated with NF2 primarily develop on the nerves responsible for balance and hearing, specifically affecting the vestibular nerve. As a result, individuals with NF2 often experience symptoms such as hearing loss, tinnitus, difficulties with balance and coordination, and frequent headaches. In addition to vestibular schwannomas, NF2 may also cause the formation of tumors in other nerves of the central nervous system, spinal cord, eyes, and skin.
Diagnosis of NF2 involves a thorough evaluation of medical history, physical examination, imaging techniques (such as MRI and CT scans), and genetic testing. While there is currently no cure for NF2, treatment aims to manage symptoms, slow tumor growth, and improve quality of life. Options may include surgery to remove or reduce the size of tumors, radiation therapy, hearing aids or cochlear implants for hearing loss, and physiotherapy to address balance issues.
Due to the complexity and potential impact of NF2, ongoing monitoring and support from healthcare professionals specializing in neurofibromatosis is crucial for affected individuals.
