Schwannomatosis

From WikiMD.org
Jump to navigation Jump to search

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

Esculaap.svg

This WikiMD dictionary 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