February 2023

Learn about Dystonia and how we can help.

Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurological symptoms. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Some forms of dystonia are genetic, but the cause for most cases is unknown. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over time, the symptoms may become more noticeable or widespread. Sometimes, however, there is little or no progression. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. For example, a musician may have dystonia when using a hand to play an instrument, but not when using the same hand to type.

What are symptoms of dystonia?

People are affected by dystonia in different ways. Functions of the body that can be affected include:

• Foot cramp or a tendency for one foot to turn or drag

• Worsening in handwriting after writing several lines

• Neck may turn or pull involuntarily, especially when the person is tired or under stress

• Both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close

• Tremor

• Difficulty speaking
   

What causes dystonia?

Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. There may be abnormalities in the brain’s ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. There also may be abnormalities in the way the brain processes information and generates commands to move.

How is dystonia classified?

Age at which symptoms develop, areas of the body affected and underlying cause are the three main factors that determine how dystonia is classified.

• Early onset dystonia often begins with symptoms in the limbs and may progress to involve other regions. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day.

• Adult onset dystonia is usually located in one or adjacent parts of the body, most often involving the neck and/or facial muscles. Acquired dystonia can affect other regions of the body.

• General dystonia affects most or all of the body.

• Focal dystonia is localized to a specific part of the body.

• Multifocal dystonia involves two or more unrelated body parts.

• Segmental dystonia affects two or more adjacent parts of the body.

• Hemidystonia involves the arm and leg on the same side of the body.

How is dystonia diagnosed?

Dystonia is classified along two distinct axes.

• Axis I is based on clinical features which include age at onset, body region affected, specific features, and whether there are associated clinical problems.

• Axis II is based on etiology or cause. This classification includes dystonia caused by genetics or abnormalities in the brain, and idiopathic dystonia, for which the cause is unknown. 

How is dystonia treated?

Currently, there are no medications to prevent dystonia or slow its progression. There are, however, several treatment options that can ease some of the symptoms of dystonia.

• Botulinum toxin (botox) injections often are the most effective treatment for focal dystonia. Injections of small amounts of this chemical into affected muscles prevent muscle contractions and can provide temporary improvement in the abnormal postures and movements.

• Deep brain stimulation (DBS) may be recommended for some individuals with dystonia, especially when medications do not sufficiently ease symptoms or the side effects are too severe.

• Surgical treatment aims to interrupt the pathways responsible for the abnormal movements at various levels of the nervous system.

How We Can Help