Dystonia is a disorder that affects the way the body moves. It causes the muscles to contract, which makes them move involuntarily or get stuck in an abnormal position. Dystonia can affect the entire body or a certain part, and the movements can sometimes cause pain.
Although experts aren't exactly sure what causes dystonia, it is thought to be related to a problem in the part of the brain called the basal ganglia. This is where the brain processes the information that helps your muscles contract. The theory is that the neurotransmitters, the chemicals that do the "talking" in the brain, are abnormal in people with dystonia. (Dystonia, however, doesn't affect intelligence or cognitive thinking and 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 first appear at any age, from children (usually between the ages of 5 and 16) to adults.
Symptoms may start slowly—you might notice that your handwriting is deteriorating. Sometimes you may get cramps in the feet or, more noticeably, you may lose control over a 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 the neck to one side, particularly when you’re feeling fatigued or stressed
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.
There are different types of dystonia. Each type is identified by which part of the body is affected:
Hemidystonia affects a leg and arm on one side of the body.
Multifocal dystonia affects at least two different parts of the body.
Segmental dystonia affects at least two parts of the body that are next to each other.
Generalized dystonia affects areas all over the body or the entire body.
Focal dystonia affects one particular area of the body.
Diagnosing dystonia is a multistep process because no particular test can give a definitive answer. Your doctor will usually perform a physical exam and evaluate your symptoms, plus 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)
Doctors 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 can be tried to treat dystonia, such as drugs that affect the specific neurotransmitters acetylcholine, GABA, and dopamine. Other drugs that your doctor 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 involve drastic measures, such as surgically destroying parts of the brain, which can pose the threat of serious side effects.
These are other possible treatment methods:
Learning new ways to manage stress
Deep brain stimulation therapy
Physical or speech therapy
Wearing a splint on affected parts of the body
Any involuntary muscle spasms or loss of control over muscles are symptoms that you should discuss with your doctor.
Even though you may not be able to prevent dystonia, genetic testing can reveal if you have a genetic mutation that can cause dystonia.
Some people with dystonia may develop permanent malformations if the muscle spasms lead to constriction of the tendons.
Treatments can help manage dystonia and prevent complications. Researchers have come a long way in understanding and treating dystonia, and future research will hopefully reveal even more successful strategies.