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Dystonia dis-ˈtō-nē-ə

By Hector A. Gonzalez-Usigli, MD; Alberto Espay, MD

Dystonia is characterized by long-lasting (sustained) involuntary muscle contractions that may force people into abnormal positions—for example, causing the entire body, the trunk, limbs, or neck to twist.

  • Dystonia may result from a genetic mutation, a disorder, or a drug.

  • Muscles in the affected part of the body contract, distorting the position of that body part.

  • The cause is corrected if possible, but if not, drugs, such as mild sedatives, levodopa plus carbidopa, and botulinum toxin, may help relieve symptoms.


Dystonia seems to result from overactivity in several areas of the brain—the basal ganglia, thalamus, cerebellum, and cerebral cortex. Dystonia may result from a genetic mutation (called primary dystonia) or from a disorder or drug (called secondary dystonia). Antipsychotic drugs and some drugs used to relieve nausea can cause various types of dystonia, including shutting of the eyelids, twisting of the neck (spasmodic torticollis) or back, grimacing, puckering of the lips, protrusion of the tongue, and writhing of the arms or legs.

Causes of Dystonia




Cerebral palsy

Genetic disorders, such as generalized dystonia and dopa-responsive dystonia

Multiple sclerosis

A severe lack of oxygen to the brain (which may occur at birth or later in life)


Toxicity due to accumulation of certain metals (such as copper in Wilson disease)


Drugs used to relieve nausea (antiemetics), such as metoclopramide and prochlorperazine

Drugs used to treat psychosis (antipsychotic drugs), such as chlorpromazine, fluphenazine, haloperidol, and thiothixene

Types and Symptoms

Dystonias may affect one part (focal dystonias) or several parts (segmental dystonias) of the body. Sometimes they affect the whole body (generalized dystonias).

Focal and segmental dystonias

Dystonias that affect one or several body parts typically start in a person’s 30s but sometimes start earlier. Initially, contractions (spasms) may occur periodically or only during stress. Certain movements of the affected body part may trigger the spasms, which may disappear during rest. Over days, weeks, or many years, spasms may become more frequent and may continue during rest. Eventually, the affected body part may remain distorted, sometimes in a painful position. As a result, people may be severely disabled.

The following are examples of focal or segmental dystonias:

  • Blepharospasm: This dystonia affects mainly the eyelids. The eyelids are repeatedly and involuntarily forced shut. Occasionally, only one eye is affected at first, but ultimately, the other eye is also affected. It usually begins as excessive blinking, eye irritation, or extreme sensitivity to bright light. Many people with blepharospasm find ways to keep their eyes open, such as yawning, singing, or opening the mouth wide. These techniques become less effective as the disorder progresses. Blepharospasm can severely impair vision if the eyes cannot be kept open as needed.

  • Spasmodic torticollis: Torticollis specifically affects the muscles of the neck. Spasmodic torticollis, also called adult-onset cervical dystonia, is the most common form of cervical dystonia, which is the most common dystonia of the neck (see Cervical Dystonia).

  • Spasmodic dysphonia: The muscles of the vocal cords, which control speech, contract involuntarily. Speech may be impossible or may sound strained, quavery, hoarse, whispery, jerky, creaky, staccato, or garbled and be difficult to understand.

  • Occupational dystonias: These dystonias, also called task-specific dystonias, affect one part of the body and often result from overuse. For example, golfers may have involuntary muscle spasms in the hands and wrists (called the yips). The yips may make putting nearly impossible. What is supposed to be a 3-foot putt can become a 15-foot putt when a golfer loses control because of the yips. Similarly, musicians, especially concert pianists, may have bizarre spasms of the fingers, hands, or arms that prevent them from performing. Musicians who play wind instruments may have spasms of the mouth. Persistent writer’s cramp may be dystonia.

  • Meige disease: This dystonia combines involuntary blinking with jaw grinding and grimacing. Thus, it is also called blepharospasm-oromandibular dystonia. (“Blepharo” refers to the eyelids, “oro” refers to the mouth, and “mandibular” refers to the jaw.) It usually begins in late middle age.

Generalized dystonias

Dystonias that affect the whole body include the following:

  • Generalized dystonia: This rare dystonia, also called idiopathic torsion dystonia, is progressive and often hereditary. In many cases, specific genetic mutations have been identified. The gene most commonly affected is the DYT1 gene. The resulting dystonia is called DYT1 dystonia. Involuntary movements result in sustained, often bizarre postures. Typically, symptoms begin during childhood, often with turning the foot in during walking. The dystonia may affect only the trunk or a leg but sometimes affects the whole body, ultimately confining children to a wheelchair. When this dystonia develops in adults, it usually begins in the face or arms and usually does not affect other parts of the body. Mental function is not affected.

  • Dopa-responsive dystonia: This rare form of dystonia is hereditary. Symptoms usually begin during childhood. Typically, one leg is affected first. As a result, children tend to walk on tiptoes. Symptoms worsen at night. Walking becomes progressively more difficult, and both arms and legs are affected. However, some children have only mild symptoms, such as muscle cramps after exercise. Sometimes symptoms appear later in life and resemble those of Parkinson disease. Movements may be slow, balance may be difficult to maintain, and a tremor may occur in the hands during rest. Symptoms lessen dramatically when people are given low doses of levodopa. If levodopa relieves the symptoms, the diagnosis is confirmed.

Did You Know...

  • Drugs used to treat nausea or psychosis sometimes cause abnormal sustained muscle contractions (dystonias).

  • Botulinum toxin, also used to treat facial wrinkles, is used to treat some dystonias.


Correcting or eliminating the cause of dystonia, if known, usually reduces the spasms. For example, drugs used to treat multiple sclerosis may reduce spasms related to that disease. When dystonia is due to use of an antipsychotic drug, promptly taking diphenhydramine by injection or by mouth usually stops the spasms quickly, and the antipsychotic is stopped.

For generalized dystonia, a drug with anticholinergic effects (such as trihexyphenidyl or benztropine) is most commonly used. These drugs reduce spasms by blocking specific nerve impulses involved in causing the spasms. However, anticholinergic effects also include confusion, drowsiness, dry mouth, blurred vision, dizziness, constipation, difficulty urinating, loss of bladder control, and tremor, which are troublesome, especially in older people. A benzodiazepine (a mild sedative) such as clonazepam, baclofen (a muscle relaxant), or both are also usually given. Baclofen may be given by mouth or by a pump implanted in the spinal canal. If generalized dystonia is severe or does not respond to drugs, tiny electrodes may be surgically implanted in the basal ganglia (a procedure called deep brain stimulation).

Some people, especially children with dopa-responsive dystonia, improve dramatically when they are treated with levodopa plus carbidopa.

If one or a few body parts are affected, botulinum toxin (a bacterial toxin used to paralyze muscles or to treat wrinkles) is injected into the overactive muscles. Botulinum weakens the muscle contraction but does not affect the nerves. These injections are particularly useful for blepharospasm and spasmodic torticollis. However, injections must be repeated about every few months. The toxin becomes less effective over time because when repeatedly exposed to it, the body produces antibodies that inactivate the toxin.

Physical therapy helps some people, especially those who are treated with botulinum.

Cervical Dystonia

(Spasmodic Torticollis)

Cervical dystonia is characterized by long-lasting (chronic sustained) involuntary contractions (spasms) or periodic, intermittent contractions of the neck muscles, causing the neck to turn in different ways.

  • The cause of cervical dystonia is usually unknown.

  • Doctors base the diagnosis on symptoms and results of the physical examination.

  • Injections with botulinum toxin are used first, but if they are ineffective, drugs, taken by mouth, can be used.

  • Physical therapy may help relieve some symptoms.

The neck may rotate (called torticollis), tilt (called laterocollis), or bend forward (called anterocollis) or backward (called retrocollis). One form (called adult-onset cervical dystonia) begins in adulthood. Because it causes the neck to rotate, it is sometimes called spasmodic torticollis.

In some people, cervical dystonia may be caused by a genetic mutation. Some of these people also have other dystonias that affect only one body part, such as the eyelids, face, jaw, or hand. Stress and emotional problems may make spasmodic torticollis worse.

Cervical dystonia can be present at birth or occur later, caused by various neurologic conditions. Or it may result from the use of drugs that block dopamine (such as haloperidol and other antipsychotic drugs).


Symptoms may begin at any age but usually begin between the ages of 20 and 60, most often between ages 30 and 50.

Symptoms usually begin gradually but may begin suddenly. Sometimes symptoms begin with shaking the head from side to side, as if people are shaking their head to say no. Some neck muscles may contract and stay contracted, or they may contract intermittently, twisting the neck. The contractions may be painful. The head may be turned to one side or pulled forward or backward. Sometimes one of the shoulders is raised. People may find tricks that help correct these abnormal positions. For example, touching their face may help. During sleep, muscle spasms disappear.

Symptoms range from mild to severe. Usually, the spasms worsen slowly for 1 to 5 years, then plateau. In about 10% of people, they disappear on their own, within 5 years from when symptoms begin. Spasms are more likely to disappear when they are mild and begin at a young age. However, they may persist for life, restricting movement and permanently twisting the head, neck, and shoulders in a distorted position.

Diagnosis and Treatment

The diagnosis is based on symptoms and neurologic examination.

Some physical techniques can sometimes temporarily relieve spasms. Physical therapy may help by improving flexibility. Therapists may also help people identify which movements worsen spasms and which ones relieve them. Biofeedback (using relaxation techniques to control unconscious body processes, such as heart rate and muscle tension) may help some people.

Injections of botulinum toxin into the affected muscles can reduce painful spasms in about 70% of people and allow the head to return to a more normal position. However, for continuous relief, injections must be repeated every 3 to 4 months. Pain relievers, given by mouth, can lessen the pain but do not control the spasms. Drugs with anticholinergic effects, such as trihexyphenidyl, may help relieve spasms, but troublesome side effects (such as confusion, drowsiness, and dry mouth) may limit their use. A benzodiazepine (a sedative), particularly clonazepam, baclofen (a muscle relaxant), and carbamazepine (an anticonvulsant) may help.

The role of surgery is controversial. Surgery involves cutting the nerves to the affected muscles, so that nerves can no longer stimulate the muscle to contract. When the procedure is done by skilled surgeons, benefits outweigh potential complications.

When an emotional problem contributes, psychiatric treatment is recommended.

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