Dystonia 7, Torsion

Overview

Type of disease: Rare conditions

Dystonia is a general term for a large group of movement disorders. They are have different symptoms and causes, and often need different treatments. Dystonia causes involuntary muscle contractions that force the body into unusual, sometimes painful, movements and positions. The muscular contractions may be continue or come and go. Most forms of dystonia lead to twisting and repetitive movements that affect the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups. Dystonia may worsen for an individual when they attempt to move. There are many different causes for dystonia. Usually, the type of dystonia is determined by the certain characteristics (including age, body location, and symptoms) as well as by cause.

Genetic as well as non-genetic factors can contribute to the development of these disorders. In some cases, the exact, underlying cause is unknown. There have been about 25 forms of dystonia identified. Genetic mutations that have been linked to dystonia may be inherited in an autosomal recessive, autosomal dominant, X-linked or mitochondrial manner depending on the genes involved and the type of dystonia.

Although there is not one single test to diagnose dystonia, physicians will usually look at symptoms, take a patient history, take blood and urine tests, use types of electrical recording like EEG, and sometimes do genetic testing to diagnose dystonia. At this time, there is no cure for dystonia. Current treatments try to help symptoms by relieving muscle spasms, pain and discomfort, and unnatural postures. If you or your child has been diagnosed with dystonia, talk to your doctor about current treatment options.

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