Dystonia

Dystonia can affect different parts of the body. The disease is classified by what part of the body is affected. These classifications include:

• Generalized dystonia, which affects most or all of the body
• Focal dystonia, which affects one body part
• Multifocal dystonia, affecting multiple unrelated body parts
• Segmental dystonia, affecting adjacent body parts
• Hemidystonia, which affects one side of the body.

There are also several types of dystonia related to the eyes, face, neck, jaw, throat, and more.

Early symptoms of dystonia are typically mild, such as a dragging leg, cramping of a foot, involuntary movement of the neck, or uncontrollable blinking. These symptoms usually appear or worsen with exertion, stress, fatigue, and certain activities. Constant muscle contractions can lead to pain and exhaustion. The condition may progress to where the abnormal movements and postures happen while walking or at rest. In some forms of dystonia, the tendons shorten, causing permanent restrictions in affected areas of the body.

The age when dystonia starts can affect how it progresses. If dystonia begins in childhood, symptoms often start in a hand or foot and quickly spread to the rest of the body before the progression slows in adolescence. If dystonia begins in young adulthood, symptoms usually start in the upper body and slowly progress. And if it starts in later adulthood, symptoms typically only affect one muscle or area of the body.

There is no specific test to diagnose dystonia. Doctors will look at physical symptoms, a person’s medical and family history, and perform a neurologic examination. To rule out other conditions or find an underlying cause, they may do blood or urine tests, an MRI or CT scan, or an analysis of cerebrospinal fluid. Genetic testing may be recommended if a person might have a hereditary form of dystonia.

There is no cure for dystonia and no one treatment that works for everyone. However, a combination of therapies based on the type of dystonia and its severity can help relieve symptoms. Common treatments include muscle relaxants and anti-spasmodic or anti-epilepsy medication to reduce muscle spasms and pain. Anti-anxiety medication and antidepressants can also help. Regular injections of botulinum toxin, like Botox, can temporarily block communication between the nerve and the muscle to reduce contractions. Some people are able to control their muscle contractions using a method called sensory trick. Sensory trick involves stimulating the affected muscle or those near it with a simple touch.

If these treatments do not manage symptoms or a person becomes disabled, they may benefit from a surgical procedure called deep brain stimulation. In this procedure, electrodes are inserted into the brain and connected to a battery-powered stimulator implanted in the chest that blocks the signals that cause dystonia. Physical, occupational, and speech therapy are also helpful for providing relief and maintaining normal muscle activity.

Many organizations support research to learn more about the nervous system, potential causes of dystonia, and targeted treatments, including gene therapy and transcranial magnetic stimulation.