What Is Neurofibromatosis?
Neurofibromatosis is a genetic disorder of the nervous system that affect many parts of the body. The disorder affects the development of nerve cell tissue as well as the brain and spinal cord. Although the tumors are usually noncancerous, some can become malignant. Neurofibromatosis can range from mild to severe, which can lead to complications such as, "hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain," (Mayo Clinic). There are three types of neurofibromatosis: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is the most common, and Schwannomatosis is the least common. Neurofibromatosis is caused by genetic mutations, either inherited
or through a change in the genes. People with N1 might experience symptoms such as several spots and freckles in the armpit, tiny bumps in the iris of the eye, learning disabilities, and nerve related pain. People with NF2 often experience loss of hearing at early age, headache and weakness, and poor balance. Lastly, people with Schwannomatosis may have pain from enlarged tumors, weakness and numbness in the fingers and toes.
Neurofibromatosis can be diagnosed by a doctor with a normal physical exam, using the medical and family history of the patient, X-rays, CT scans, genetic testing. Magnetic resonance imaging, MRI tests can also help detect changes in the brain and identify tumors. Although there is no cure for this disorder, various treatments are available to control symptoms. Surgical removal of tumors is one of the most common treatments. Chemotherapy or radiation for cancerous tumors, is also common. Pain medications such as, Gabapentin or pregabalin can help manage nerve pain. Unfortunately, neurofibromatosis cannot be prevented, because it is often passed genetically or the mutation that causes neurofibromatosis happens spontaneously.
or through a change in the genes. People with N1 might experience symptoms such as several spots and freckles in the armpit, tiny bumps in the iris of the eye, learning disabilities, and nerve related pain. People with NF2 often experience loss of hearing at early age, headache and weakness, and poor balance. Lastly, people with Schwannomatosis may have pain from enlarged tumors, weakness and numbness in the fingers and toes.
Neurofibromatosis can be diagnosed by a doctor with a normal physical exam, using the medical and family history of the patient, X-rays, CT scans, genetic testing. Magnetic resonance imaging, MRI tests can also help detect changes in the brain and identify tumors. Although there is no cure for this disorder, various treatments are available to control symptoms. Surgical removal of tumors is one of the most common treatments. Chemotherapy or radiation for cancerous tumors, is also common. Pain medications such as, Gabapentin or pregabalin can help manage nerve pain. Unfortunately, neurofibromatosis cannot be prevented, because it is often passed genetically or the mutation that causes neurofibromatosis happens spontaneously.