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Dystonia symptoms:

• Include involuntary muscle contractions that cause a distorted posture or appearance.
• Begin in a single region, such as your foot, hand or face.
• Occur during a specific action. For example, you may experience involuntary contractions in one leg when walking forward, but not when running forward or walking backward.
• Worsen with stress, fatigue or anxiety.
• Plateau within a few years.

The impact of dystonia on a person's quality of life varies depending on the part of the body affected and the severity of contractions:

• Eyelids. Rapid blinking or squinting (blepharospasm) can be so severe that it makes you functionally blind.
• Neck. Cervical dystonia may cause the head to twist and turn painfully to one side, or to pull forward or backward.
• Jaw and tongue. Oromandibular dystonia may cause slurred speech or difficulty eating or swallowing.
• Hand and forearm. Muscian's cramp is a dystonia syndrome that impairs playing an instrument. Writer's cramp is a dystonia syndrome that impairs writing. An early sign of writer's cramp dystonia may be handwriting that worsens after you've written a few lines with cramping of the hand or forearm.

When to see a doctor
Because early symptoms of dystonia are often mild, intermittent and linked to a specific activity, some people with dystonia initially think they're just imagining a problem. If you or someone you know is experiencing such involuntary muscle contractions, a doctor visit may lead to helpful treatment.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Doctors don't know exactly what causes most cases of dystonia, but a few factors may be involved.

Altered nerve cell communication
Dystonia has been linked to altered communication between nerve cells located in the basal ganglia — an area of the brain involved in initiating muscle contractions.

Genetic changes
Researchers have also discovered a number of genetic changes associated with certain inherited forms of dystonia and also with other forms of dystonia. However, most cases of adult-onset focal dystonias have not been linked to genes.

Other disorders
Sometimes dystonia is but one symptom of a more pervasive disorder that affects the basal ganglia, such as:

• Parkinson's disease
• Huntington's disease
• Traumatic brain injury
• Stroke
• Brain tumor
• Oxygen deprivation
• Infections, such as tuberculosis or encephalitis
• Reactions to certain drugs
• Heavy metal or carbon monoxide poisoning

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Depending on the type of dystonia, you may experience complications, such as:

• Permanent physical deformities
• Physical disabilities that can affect your ability to perform day-to-day activities
• Functional blindness from dystonia that affects the eyelids (blepharospasm)
• A hoarse voice from dystonia of the vocal cords (spasmodic dysphonia)
• Social misunderstanding, because some people suspect that mental illness or mental retardation is the cause of disordered movement.
• Pain and fatigue, because the constant contraction of muscles is somewhat like a sustained workout.

All of these factors may lead to feelings of frustration, depression or anxiety.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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You're likely to start by seeing your family doctor or a general practitioner. However, you may then be referred to a doctor who specializes in disorders of the nervous system (neurologist).

Here's some information to help you get ready for your appointment, and what to expect from your doctor.

What you can do

• Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Write down key personal information, including any major stresses or recent illnesses.
• Make a list of all medications, as well as any vitamins or supplements, that you're taking, along with information on the dose that you take.
• Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
• Write down questions to ask your doctor.

Preparing a list of questions can help you make the most of your time with your doctor. For dystonia, some basic questions to ask your doctor include:

• What's the most likely cause of my symptoms?
• What made my dystonia occur?
• What kinds of tests do I need? Do these tests require any special preparation?
• Is dystonia temporary or long lasting?
• What treatments are available, and which do you recommend?
• What types of side effects can I expect from treatment?
• Are there any alternatives to the primary approach that you're suggesting?
• Will these treatments keep me from being disabled?
• I have other health conditions. How can I best manage these conditions together?
• Are there any activity restrictions that I need to follow?
• Is there a generic alternative to the medicine you're prescribing me?
• Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

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

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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During your doctor's appointment you'll be asked to provide:

• A complete medical history, including any family history of dystonia, previous head injury or stroke, or exposure to toxins or drugs
• Blood or urine samples that may reveal the presence of toxins

Your doctor may also request that you have a magnetic resonance imaging (MRI) scan done to look for tumors, lesions or evidence of a stroke.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Dystonia treatment has improved in recent years, due to successes with botulinum toxin (Botox, Myobloc) injections. For more disabling cases, deep brain stimulation is now an option approved by the Food and Drug Administration.

Oral medications
Some forms of early-onset dystonia respond to levodopa and carbidopa (Parcopa, Sinemet) — a medication combination that increases brain dopamine, a neurotransmitter involved with muscle movement.

Dystonia prescriptions that act on other neurotransmitters include:

• Trihexyphenidyl
• Benztropine
• Diazepam (Valium)
• Lorazepam (Ativan)
• Clonazepam (Klonopin)
• Baclofen (Lioresal)

Possible side effects from these medications include drowsiness, dry mouth, constipation, blurred vision and confusion.

Sensory trick
A common phenomenon associated with dystonia is called a sensory trick. Touching an affected or adjacent body part can sometimes significantly reduce contractions. For example, placing a hand on the chin, side of the face or back of the head may reduce the muscle contractions of neck (cervical) dystonia. People with dystonia may discover and use this trick to reduce their own dystonic contractions.

Botulinum toxin
Botulinum toxin (Botox, Myobloc) blocks the release of a chemical messenger that triggers muscle contractions. When your doctor injects the toxin into a muscle, it causes that muscle to temporarily weaken, which may reduce or eliminate dystonic contractions. The effect wears off, and injections need to be repeated about every three months. Possible side effects from botulinum toxin depend on the site where it's injected, but may include excessive muscle weakness; if injected near the mouth or front of the neck, it may result in trouble swallowing.

Deep brain stimulation
This technique involves implanting an electrode in the brain and a stimulating device, connected to the electrode, implanted in the chest. The stimulator generates electrical pulses, transmitted via the implanted electrode into a specific brain region that reduces the abnormal muscle contractions. To modulate the effect of the treatment, your doctor can adjust the frequency and intensity of electrical pulses. Risks include infection, stroke-like problems, such as weakness or paralysis, and possible speech difficulties.

Surgery
Surgery is considered only in certain types of dystonia and when other treatments have not worked. With certain types of dystonia, surgeons can sever or remove the nerves controlling the contracted muscle. This may be done for eyelid dystonia (blepharospasm) or neck (cervical) dystonia.

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Alternative treatments for dystonia haven't been well-studied, but some people find that these therapies are helpful, although not dramatically so.

• Biofeedback. Biofeedback helps you control certain body responses. During a biofeedback session, you're connected to devices that monitor and give feedback on your body's functions, such as muscle tension, heart rate and blood pressure. You then learn how to reduce muscle tension and enter a relaxed state.
• Meditation. Meditation is a time of quiet reflection in which you focus your mind on something, such as an idea, image or sound. Meditation may reduce stress and promote relaxation.
• Acupuncture. During an acupuncture session, a trained practitioner inserts tiny needles into numerous points on your body, which may help your muscles relax.
• Yoga. Yoga combines gentle stretching movements with deep breathing and meditation, which may help you relax and keep your muscles more flexible.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.

Living with dystonia can be difficult and frustrating. You may not always be able to get your body to move the way you want it to, and at the same time you have to cope with people who don't understand your condition. You may find it helpful to talk to a therapist, or you might find it more beneficial to join a support group to talk to others who really understand what you're going through. In addition, people who are living with dystonia may be able to give you useful tips about daily living with dystonia. Ask your doctor if he or she knows if there are any support groups in your area. Or, call the Dystonia Medical Research Foundation at 800-377-DYST (800-377-3978) or visit its Web site to find a support group near you.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.