Schwannomatosis
Schwannomatosis
Schwannomatosis (pronunciation: /ʃwɑːnəməˈtoʊsɪs/) is a rare form of a genetic disorder that primarily affects the nervous system. It is characterized by the growth of benign tumors, known as schwannomas, on the cranial, spinal, and peripheral nerves.
Etymology
The term "Schwannomatosis" is derived from the name of the German physiologist Theodor Schwann, who discovered Schwann cells, and the Greek suffix "-osis," which indicates an abnormal condition or disease. The term thus refers to a condition characterized by an abnormal proliferation of Schwann cells.
Symptoms
The primary symptom of Schwannomatosis is chronic pain, which can occur anywhere in the body depending on the location of the schwannomas. Other symptoms may include muscle weakness, numbness, and tingling sensations.
Causes
Schwannomatosis is caused by mutations in certain genes, including the SMARCB1 and LZTR1 genes. However, in many cases, the cause of the disease is unknown.
Diagnosis
Diagnosis of Schwannomatosis is based on clinical criteria, including the presence of multiple schwannomas, chronic pain, and a negative family history of Neurofibromatosis type 2 (NF2).
Treatment
Treatment for Schwannomatosis primarily involves managing the symptoms, particularly the chronic pain. This may involve pain medication, physical therapy, and in some cases, surgical removal of the schwannomas.
Related Terms
External links
- Medical encyclopedia article on Schwannomatosis
- Wikipedia's article - Schwannomatosis
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski