What is dystonia?
Dystonia is a disorder that affects the way your body moves. It causes your muscles to contract, which makes them move involuntarily, or get stuck in an abnormal position. Dystonia can affect your entire body or a certain part. The movements can sometimes cause pain.
There are different types of dystonia. Each is identified by which part of your body is affected:
Hemidystonia affects a leg and arm on one side of your body.
Multifocal dystonia affects at least 2 different parts of your body.
Segmental dystonia affects at least 2 parts of your body that are next to each other.
Generalized dystonia affects areas all over your body.
Focal dystonia affects one particular area of your body.
What causes dystonia?
Although experts aren't exactly sure what causes dystonia, they think it is related to a problem in the part of the brain called the basal ganglia. This is where your brain processes the information that helps your muscles contract. The theory is that your neurotransmitters, the chemicals that do the "talking" in the brain, are abnormal in people with dystonia. (Dystonia, however, doesn't affect your intelligence or your ability to think. It isn’t generally related to mental health issues.)
Research has pinpointed a number of different genetic mutations that have been linked to dystonia. Dystonia can also be caused by a stroke; this is called secondary dystonia, and the symptoms are usually limited to one side of the body.
The first signs of dystonia can appear at any age, from children (usually between the ages of 5 and 16) to adults.
What are the risk factors for dystonia?
Scientific researchers have not yet determined the exact cause of dystonia, but they believe certain factors can put you at risk for the disorder. These include:
- Genetic predisposition
- Injury to your brain or nervous system
What are the symptoms of dystonia?
Symptoms may start slowly — you might notice that your handwriting is deteriorating. You may get cramps in your feet or, more noticeably, you may lose control over your foot and find that it contracts or drags along.
Other symptoms of dystonia can include:
- Involuntary and rapid blinking that you can't stop
- A sudden tightening or turning of your neck to one side, particularly when you’re feeling fatigued or stressed
- Difficulty speaking
- A tremor in your voice
- Symptoms that worsen with tiredness, stress, or lots of physical activity
The symptoms of dystonia may stay the same or worsen over time.
How is dystonia diagnosed?
Diagnosing dystonia is a multistep process because no particular test can give a definitive answer. Your health care provider will usually perform a physical exam and evaluate your symptoms. He or she will also take a personal and family history to find out if you have any genetic indications for dystonia.
Other tests used to help diagnose dystonia include:
- Genetic tests to look for known mutations linked to dystonia
- Tests to analyze blood, urine, and cerebrospinal fluid
- Testing that can eliminate other health conditions as the cause of your symptoms
- An EEG (electroencephalography) or EMG (electromyography)
How is dystonia treated?
Health care providers typically take an individualized approach and use a combination of methods to help you manage pain and reduce muscle spasms. A number of different medications that treat dystonia can be tried. These include drugs that affect the specific neurotransmitters acetylcholine, GABA, and dopamine. Other drugs that your health care provider might prescribe are anticonvulsants and even injections of Botulinum toxin (Botox).
Surgery is sometimes needed to treat dystonia, especially if symptoms can't be managed through medication. But surgery can have negative consequences, such as destroying parts of your brain.
Other possible treatment methods include:
- New ways to manage stress
- Deep brain stimulation therapy
- Physical or speech therapy
- Wearing a splint on affected parts of your body
What are the complications of dystonia?
Constant muscle movement and contractions can result in fatigue and exhaustion. People also report that their symptoms worsen in stressful situations. Some people with dystonia may develop permanent malformations if their muscle spasms lead to constriction of their tendons.
Can dystonia be prevented?
Even though you may not be able to prevent dystonia, genetic testing can reveal if you have a genetic mutation that can cause dystonia. Speaking with a geneticist or a genetic counselor can help you decide if genetic testing is a good idea for you and your family.
Living with dystonia
- Learn about dystonia and treatment options
- Ask your health care provider to recommend a specialist who knows about dystonia
- Find support groups so you can learn from others who have dystonia
- Develop daily strategies that support adequate rest and restorative self-care, such as meditation
- Develop layers of support systems, including family, friends, support groups, and online resources
- Investigate complementary therapies such as relaxation techniques, biofeedback, acupuncture, and meditation. Talk with your health care provider about gentle physical exercise options, such as Tai Chi or other “soft” martial arts
When should I call my health care provider?
Any involuntary muscle spasms or loss of control over muscles are symptoms that you should discuss with your health care provider.
- Dystonia affects how your body moves. The condition makes muscles involuntarily contract and can result in pain, fatigue, and exhaustion.
- It can affect your entire body or a certain part of your body
- Experts aren’t certain what causes dystonia, but they think it’s a problem in the part of your brain called the basal ganglia.
- Treatments can help manage dystonia and prevent complications.
- Researchers have come a long way in understanding and treating dystonia, and future strategies will hopefully reveal even more successful strategies.
Tips to help you get the most from a visit to your health care provider:
- Before your visit, write down questions you want answered.
- Bring someone with you to help you ask questions and remember what your provider tells you.
- At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you.
- If you have a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your provider if you have questions.