Dystonia is a neurological movement disorder that causes involuntary muscle contractions and uncontrollable spasms. These movements are often repetitive and may lead to unusual, abnormal or painful postures.
Dystonia generally develops because of a problem in the brain or nervous system that affects the control of muscle movement. It may be inherited or occur as a result of a disease or injury, such as a stroke, Parkinson’s disease, a head injury or encephalitis.
Treatment for dystonia is overseen by a neurologist and depends on the underlying cause and the severity of symptoms. Treatment options may include botulinum toxin injections, medication, physical therapy or surgery.
Symptoms of dystonia
The main symptoms of dystonia include:
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Involuntary movements, such as twisting or contorting
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Painful hand cramps
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Involuntary spasms in the wrists or fingers when writing or playing a musical instrument
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Repetitive movements
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Uncontrollably turning the head while driving or watching television
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Uncontrollable blinking
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Difficulty speaking or eating
Dystonia symptoms vary depending on the type of dystonia and may affect one specific area or the entire body.
Anyone experiencing symptoms of dystonia should consult a neurologist for an evaluation, diagnosis and appropriate treatment.
Confirming a diagnosis
Dystonia is diagnosed by a neurologist based on an assessment of the symptoms, including when they started and what makes them worse. The neurologist will also review the person’s medical history and perform a complete neurological examination.
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The doctor may also order blood and urine tests to check for toxins in the body. An MRI or CT scan may be performed to evaluate the structures of the brain.
Other tests may include electromyography, which measures muscle activity, and genetic testing to identify genetic mutations that may cause dystonia.
Possible causes
The main causes of dystonia include:
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Genetic mutations, particularly in the DYT1 and DYT6 genes
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A family history of dystonia
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Head trauma, oxygen deprivation during childbirth or a stroke
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Heavy metal or carbon monoxide poisoning
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The use of medications such as antipsychotics, antiseizure medications or metoclopramide
Neurodegenerative conditions, such as Parkinson’s disease, and brain infections, such as encephalitis, may also cause dystonia.
Types of dystonia
The main types of dystonia are:
1. Focal dystonia
Focal dystonia affects only one area of the body, such as the neck, eyes, vocal cords, arms or legs. It causes involuntary contractions and spasms in the affected muscles.
A common example is cervical dystonia, which affects the neck. It may cause the neck to tilt involuntarily forward, backward or to either side, along with pain and stiffness.
This type of dystonia generally develops during adulthood and is most common between 40 and 50 years of age.
2. Segmental dystonia
Segmental dystonia affects two or more connected areas of the body.
One example is oromandibular dystonia, which affects the muscles of the face, tongue and jaw. It can cause facial distortion and involuntary opening or closing of the mouth.
3. Multifocal dystonia
Multifocal dystonia affects two or more areas of the body that are not connected, such as the left arm and left leg.
It causes involuntary muscle contractions in the affected muscle groups.
4. Generalized dystonia
Generalized dystonia affects the trunk and at least two other parts of the body.
It usually begins during childhood or adolescence. The involuntary contractions typically start in one limb and then spread to other parts of the body.
5. Hemidystonia
Hemidystonia affects one entire side of the body.
It causes involuntary spasms and muscle stiffness throughout the affected side.
Treatment options
Dystonia treatment should be overseen by a neurologist. Its goal is to control involuntary muscle contractions and improve the person’s physical functioning, appearance and quality of life.
The main treatments for dystonia include:
1. Botulinum toxin injections
A doctor may recommend botulinum toxin injections to help reduce involuntary muscle contractions.
The doctor injects the medication directly into the affected muscles. The effects are usually temporary, so repeat injections may be needed every three to four months.
Botulinum toxin injections can cause side effects that vary depending on the injection site. For example, injections used to treat cervical dystonia may cause difficulty swallowing.
2. Medications for dystonia
Medication treatment varies depending on the type of dystonia and the symptoms and their severity.
The main medications used for dystonia include:
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Levodopa and carbidopa: may improve involuntary spasms by increasing dopamine levels in the brain
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Tetrabenazine or deutetrabenazine: may be used for disorders involving uncontrollable, irregular movements by reducing dopamine activity
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Trihexyphenidyl: an anticholinergic medication that reduces the effects of acetylcholine, a neurotransmitter involved in muscle activity
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Baclofen: helps relieve muscle stiffness and relax the muscles
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Diazepam or lorazepam: benzodiazepines that may help relax the muscles
These medications must be prescribed by a neurologist. The dose and method of use may vary depending on the type and severity of dystonia.
3. Physical therapy
Physical therapy for dystonia involves specific exercises and techniques that help maintain range of motion, improve posture and relieve pain.
It can also help prevent the affected muscles from becoming shortened or weak, improving movement and quality of life.
Physical therapy may also help prevent muscle contractures and manage some effects associated with botulinum toxin treatment. Depending on the area affected, therapy may include pain-relief techniques or exercises that support swallowing.
4. Surgery for dystonia
Surgical treatment for dystonia may be performed using two techniques:
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Deep brain stimulation: electrodes are implanted in the brain and connected to a small device similar to a pacemaker. The device is usually placed in the chest or abdomen and sends electrical impulses to the brain to help control muscle contractions
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Selective peripheral denervation: the nerve endings responsible for causing muscle spasms are cut
These surgical options are generally considered only when other treatments have not been effective.
Is dystonia curable?
Dystonia has no cure. However, treatment prescribed by a doctor can help control muscle spasms and improve quality of life.