Neurofibromatosis type 4
Neurofibromatosis type 4 (pronounced: noor-oh-fahy-broh-muh-TOH-sis type four), also known as NF4, is a rare genetic disorder characterized by the growth of non-cancerous tumors in the nervous system. The etymology of the term comes from the Greek words "neuron" (nerve), "fibra" (fiber), and "oma" (tumor), indicating the nature of the condition.
Definition
Neurofibromatosis type 4 is a subtype of Neurofibromatosis, a group of genetic disorders causing tumors to form on nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. NF4 is the least common type of Neurofibromatosis and is often associated with skin abnormalities and neurological complications.
Symptoms
The symptoms of Neurofibromatosis type 4 can vary greatly among individuals. Common symptoms include skin abnormalities, neurological complications, and the development of non-cancerous tumors on nerve tissue.
Causes
Neurofibromatosis type 4 is caused by mutations in the SMARCB1 gene. This gene provides instructions for making a protein that is involved in regulating cell growth and division. Mutations in the SMARCB1 gene disrupt the function of this protein, leading to the formation of tumors.
Diagnosis
Diagnosis of Neurofibromatosis type 4 is based on clinical criteria, including the presence of characteristic symptoms and findings, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
Treatment for Neurofibromatosis type 4 is symptomatic and supportive, focusing on alleviating the symptoms and improving the quality of life. This may include surgery to remove tumors, medication to manage pain, and physical therapy to improve mobility.
See also
External links
- Medical encyclopedia article on Neurofibromatosis type 4
- Wikipedia's article - Neurofibromatosis type 4
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