Fact: Dystonia affects about 1% of the population
What is Dystonia?
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body. Dystonia affects about 1% of the population, and women are more prone to it than men.
What Are the Symptoms of Dystonia?
Symptoms of dystonia can range from very mild to severe. Dystonia can affect different body parts, and often the symptoms of dystonia progress through stages. Some early symptoms include:
- A "dragging leg"
- Cramping of the foot
- Involuntary pulling of the neck
- Uncontrollable blinking
- Speech difficulties
Stress or fatigue may bring on the symptoms or cause them to worsen. People with dystonia often complain of pain and exhaustion because of the constant muscle contractions.
If dystonia symptoms occur in childhood, they generally appear first in the foot or hand. But then they quickly progress to the rest of the body. After adolescence, though, the progression rate tends to slow down.
When dystonia appears in early adulthood, it typically begins in the upper body. Then there is a slow progression of symptoms. Dystonias that start in early adulthood remain focal or segmental: They affect either one part of the body or two or more adjacent body parts.
What Causes Dystonia?
Most cases of dystonia do not have a specific cause. Dystonia seems to be related to a problem in the basal ganglia. That's the area of the brain that is responsible for initiating muscle contractions. The problem involves the way the nerve cells communicate.
Acquired dystonia is caused by damage to the basal ganglia. The damage could be the result of:
- Brain trauma
- Oxygen deprivation
- Drug reactions
- Poisoning caused by lead or carbon monoxide
Idiopathic or primary dystonia is often inherited from a parent. Some carriers of the disorder may never develop a dystonia themselves. And the symptoms may vary widely among members of the same family
Are There Different Types of Dystonia?
Dystonias are classified by the body part they affect:
- Generalized dystonia affects most of or all of the body.
- Focal dystonia affects just a specific body part.
- Multifocal dystonia affects more than one unrelated body part.
- Segmental dystonia involves adjacent body parts.
Hemidystonia affects the arm and leg on the same side of the body.
How is dystonia diagnosed?
At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician's ability to observe symptoms of dystonia and obtain a thorough patient history. In order to correctly diagnose dystonia, doctors must be able to recognize the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. The kind of specialist who typically has the training to diagnose and treat dystonia is a movement disorder neurologist.
The dystonia diagnostic process may include:
- Patient history
- Family history
- Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid
- Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)
- Genetic testing for specific forms of dystonia
- Other tests and screenings intended to rule out other conditions or disorders
Dystonia and mental health
Mental health is a sensitive topic for many people with dystonia as many cases of dystonia are initially mistaken for a mental health (or psychological) condition. In the vast majority of cases, dystonia is a neurological illness and does not have a mental health cause.
However, it is also increasingly understood, that although mental health conditions do not normally cause dystonia, there can be an important inter-relationship in some cases between dystonia and mental health conditions such as stress, depression and anxiety. This relationship can be two way.
Not only is the very nature of dystonia (particularly aspects like pain and disability) stressful, but also the areas of the brain affected by dystonia are associated, in part, with thinking and emotion as well as muscle movement.
For years, mental health professionals have recognized that coping with a chronic disorder like dystonia is similar to grieving a loss, such as a death or divorce. Common phases of dealing with dystonia include denial, guilt/shame, anger, bargaining, fear, depression, and acceptance. In some cases, the adjustment to chronic illness is so drastic that an individual's experience is comparable to the symptoms of post-traumatic stress disorder that affects survivors of combat or intense violence.
Similarly, the area of the brain that is implicated in dystonia, called the basal ganglia, are associated with not only controlling muscle movement, but also mood and behaviors, so it is not surprising that there is some evidence that people with dystonia may be at a higher risk of mental disorders such as depression and anxiety than the general population.
To manage your muscle contractions, your doctor might recommend a combination of medications, therapy or surgery.
Botulinum toxin (Botox) that's injected into specific muscles might reduce or eliminate your muscle contractions and improve your abnormal postures. Injections are usually repeated every three to four months.
Side effects are generally mild and temporary. They can include neck weakness, dry mouth or voice changes.
Other medications target signaling chemicals in your brain (neurotransmitters) that affect muscle movement. The options include:
- Carbidopa-levodopa (Parcopa, Sinemet). This combination medication can increase levels of the neurotransmitter dopamine.
- Trihexyphenidyl, benztropine. These medications act on other neurotransmitters. Side effects can include memory loss, blurred vision, drowsiness, dry mouth and constipation.
- Tetrabenazine (Xenazine). This medication blocks dopamine. Side effects can include sedation, nervousness, depression or insomnia.
- Diazepam (Valium), clonazepam (Klonopin), baclofen (Lioresal). These medications reduce neurotransmission and might help some forms of dystonia. These medications may cause side effects, such as drowsiness.
Your doctor might suggest:
- Physical therapy to help ease your symptoms
- Speech therapy if dystonia affects your voice
- Stretching or massage to ease muscle pain
- Sensory tricks that involve touching your affected body part, which might help reduce your contractions
If your symptoms are severe, your doctor might recommend:
- 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, which involves cutting the nerves that control muscle spasms, might be an option to treat some types of dystonia that haven't been successfully treated using other therapies.
4. Alternative medicine
Alternative treatments for dystonia haven't been well-studied. Ask your doctor about complementary treatments before you start. Consider:
- Meditation and deep breathing. Both might ease stress that can worsen spasms.
- Biofeedback. Electronic devices 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.
- Stretching or massage. These can ease muscle pain.
Want to learn more?
The following are organizations and/or websites dedicated to providing information and education surrounding Dystonia. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.
Dystonia Medical Research Foundation
National Institute of Neurological Disorders & Stroke
The Bachmann-Strauss Dystonia & Parkinson Foundation
The Dystonia Society