Dystonia

Overview

Dystonia is a movement disorder that causes the muscles to contract involuntarily. This can cause repetitive or twisting movements.

The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia), or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of daily tasks.

There's no cure for dystonia, but medications and therapy can improve symptoms. Surgery is sometimes used to disable or regulate nerves or certain brain regions in people with severe dystonia.

Symptoms

Dystonia affects different people in different ways. Muscle spasms might:

• Begin in a single area, such as your leg, neck or arm. Focal dystonia that begins after age 21 usually starts in the neck, arm or face. It tends to remain focal or become segmental.
• Occur during a specific action, such as writing by hand.
• Worsen with stress, fatigue or anxiety.
• Become more noticeable over time.

Areas of the body that can be affected include:

• Neck (cervical dystonia). Contractions cause your head to twist and turn to one side, or pull forward or backward, sometimes causing pain.
• Eyelids. Rapid blinking or spasms cause your eyes to close (blepharospasms) and make it difficult for you to see. Spasms usually aren't painful but might increase when you're in bright light, reading, watching TV, under stress or interacting with people. Your eyes might feel dry, gritty or sensitive to light.
• Jaw or tongue (oromandibular dystonia). You might experience slurred speech, drooling, and difficulty chewing or swallowing. Oromandibular dystonia can be painful and often occurs in combination with cervical dystonia or blepharospasm.
• Voice box and vocal cords (laryngeal dystonia). You might have a tight or whispering voice.
• Hand and forearm. Some types of dystonia occur only while you do a repetitive activity, such as writing (writer's dystonia) or playing a specific musical instrument (musician's dystonia). Symptoms usually don't happen when your arm is at rest.

When to see a doctor

Early signs of dystonia often are mild, occasional and linked to a specific activity. See your health care provider if you're having involuntary muscle contractions.

Causes

The exact cause of dystonia isn't known. But it might involve changes in communication between nerve cells in several regions of the brain. Some forms of dystonia are passed down in families.

Dystonia can also be a symptom of another disease or condition, including:

• Parkinson's disease
• Huntington's disease
• Wilson's disease
• Traumatic brain injury
• Birth injury
• Stroke
• Brain tumor or certain disorders that develop in some people with cancer (paraneoplastic syndromes)
• Oxygen deprivation or carbon monoxide poisoning
• Infections, such as tuberculosis or encephalitis
• Reactions to certain medications or heavy metal poisoning

Complications

Depending on the type of dystonia, complications can include:

• Physical disabilities that affect your performance of daily activities or specific tasks
• Difficulty with vision that affects your eyelids
• Difficulty with jaw movement, swallowing or speech
• Pain and fatigue, due to constant contraction of your muscles
• Depression, anxiety and social withdrawal

Diagnosis

To diagnose dystonia, your health care provider may start with a medical history and physical examination.

To determine if underlying conditions are causing your symptoms, your provider might recommend:

• Blood or urine tests. These tests can reveal signs of toxins or of other conditions.
• MRI or CT scan. These imaging tests can identify problems in your brain, such as tumors, lesions or evidence of a stroke.
• Electromyography (EMG). This test measures the electrical activity within muscles.
• Genetic testing. Some forms of dystonia are associated with certain genes. Knowing if you have these genes can help guide treatment.

Treatment

To manage dystonia, your provider might recommend a combination of medications, therapy or surgery.

Medications

Injections of botulinum toxin (Botox, Dysport, others) into specific muscles might reduce or stop your muscle spasms. Injections are usually repeated every 3 to 4 months.

Side effects are generally mild and temporary. They can include weakness, dry mouth or voice changes.

Other medications target chemicals in your brain (neurotransmitters) that affect muscle movement. The options include:

• Carbidopa-levodopa (Duopa, Rytary, others). This medication can increase levels of the neurotransmitter dopamine. This drug may also be used as a trial to help diagnose certain types of dystonia.
• Trihexyphenidyl and benztropine. These two medications act on neurotransmitters other than dopamine. Side effects can include memory loss, blurred vision, drowsiness, dry mouth and constipation.
• Tetrabenazine (Xenazine) and deutetrabenazine (Austedo). These two medications block dopamine. Side effects can include sedation, nervousness, depression or insomnia.
• Diazepam (Valium, Diastat, others), clonazepam (Klonopin) and baclofen (Lioresal, Gablofen, others). These medications reduce neurotransmission and might help some forms of dystonia. They may cause side effects, such as drowsiness.

Therapy

Your health care provider might suggest:

• Physical therapy or occupational therapy or both to help ease symptoms and improve function
• Speech therapy if dystonia affects your voice
• Stretching or massage to ease muscle pain

Surgery

If your symptoms are severe, surgery might help. There are a few types of surgery to treat dystonia:

• Deep brain stimulation. Electrodes are surgically implanted into a specific part of your brain and connected to a generator implanted in your chest. The generator sends electrical pulses to your brain that might help control your muscle contractions. The settings on the generator can be adjusted to treat your specific condition.
• Selective denervation surgery. This procedure involves cutting the nerves that control muscle spasms. It might be an option when other treatments for cervical dystonia haven't worked.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

Dystonia has no cure, but you can do several things to manage symptoms:

• Sensory tricks to reduce spasms. Touching certain parts of your body may cause spasms to stop temporarily.
• Heat or cold. Applying heat or cold can help ease muscle pain.
• Stress management. Learn effective coping skills to manage stress, such as deep breathing, social support and positive self-talk.

Alternative medicine

Alternative treatments for dystonia haven't been well studied. Ask your health care provider about complementary treatments before you start them. Consider:

• Meditation and deep breathing. Both might ease stress that can worsen spasms.
• Biofeedback. A therapist uses electronic devices to monitor your body's functions, such as muscle tension, heart rate and blood pressure. You then learn how to control your body responses, which might help reduce muscle tension and stress.
• Yoga. Yoga combines physical postures, breathing techniques, and meditation or relaxation.

Coping and support

Living with dystonia can be difficult and frustrating. Your body might not always move as you would like, and you may be uncomfortable in social situations. You and your family might find it helpful to talk to a therapist or join a support group.

Preparing for your appointment

You may be referred to a doctor who specializes in disorders of the nervous system (neurologist).

What you can do

• Write down your symptoms, including any that may seem unrelated to the reason why you scheduled the appointment.
• Make a list of all your medications, vitamins and supplements.
• Write down your key medical information, including other conditions.
• Write down key personal information, including any recent changes or stressors in your life.
• Ask a relative or friend to accompany you, to help you remember what your provider says.
• Write down questions to ask your provider.

Questions to ask your health care provider

• What's the most likely cause of my symptoms?
• What kinds of tests do I need? Do they require any special preparation?
• Is my condition likely temporary or chronic?
• What treatments are available?
• What side effects can I expect from these treatments?
• I have other health conditions. How can I best manage them together?

In addition to the questions that you've prepared to ask, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your provider may ask you some questions. Being ready to answer them may give you more time to focus on your concerns. You may be asked:

• When did you first notice your symptoms?
• Have your symptoms been continuous or occasional?
• How severe are your symptoms?
• What, if anything, seems to improve your symptoms?
• What, if anything, appears to worsen your symptoms?
• Has anyone in your family ever been diagnosed with dystonia?