A Guide Dystonia: Types, Signs, Treatments

Medically Reviewed By Shilpa Amin, M.D., CAQ, FAAFP

Dystonia is a movement disorder involving involuntary and repetitive muscle contractions — even when the person is still. Dystonia may affect one or many different muscle groups. It can be painful, as the contractions can force a twisted or otherwise irregular posture or position. Dystonia can occur in people of all ages and ethnicities. In the United States, approximately 250,000 people have a dystonia diagnosis, with potentially many more undiagnosed or misdiagnosed.

There is no specific test to diagnose dystonia. Doctors rely on symptoms and tests to rule out other conditions. There is also no cure for dystonia. Treatments can help manage muscle contractions and other symptoms. 

This article covers the details of dystonia, including the symptoms, diagnosis, treatment, and prevention.

What is dystonia?

Dystonia is a neurological movement disorder. It occurs when there is a problem in the basal ganglia. The basal ganglia are a group of brain structures located deep in the brain below the cerebral cortex.

The basal ganglia coordinates movement. It keeps body motions smooth and consistent. It also inhibits unwanted or unnecessary muscle actions when you move. Problems in the basal ganglia cause movements to lose fluidity and purpose.

Dystonia can affect any body part including legs, arms, torso, face, neck, and vocal cords. Muscle contractions may or may not be painful. 

Dystonia symptoms often start off mild. Sometimes, they only occur with certain activities or movements. Contact your doctor promptly if you are having muscle movements or contractions that you cannot control.

What are the different types of dystonia?

Dystonia is a complex disorder and the term is also used to describe a group of movement disorders.  

Generally, doctors classify dystonia by four main factors: the age when dystonia first begins, the body area affected, the time, and the cause. Any combination of these three factors defines the type of dystonia.

1. Age of onset

The age of onset is important because certain dystonia types tend to start at specific ages. Age of onset also influences prognosis. The earlier the dystonia starts, the more likely it will progress to affect multiple body parts. The older a person is at onset, the more likely dystonia will remain moderate and focused in the area it started.

Age categories for dystonia are:

  • infancy, birth to 2 years
  • childhood, 3–12 years
  • adolescence, 13–20 years
  • adulthood, older than 20 years

2. How it affects the body

Another way to classify dystonia is by how it affects the body:

  • Focal dystonia affects one area or body part.
  • Generalized dystonia affects muscles throughout the body.
  • Hemidystonia affects muscles on one side of the body, either the right or left side. 
  • Multifocal dystonia affects two or more body parts that are distant from each other.
  • Segmental dystonia affects two or more adjacent or close body parts.

3. Temporal pattern

The temporal pattern of the dystonia is another way to classify them:

  • Persistent dystonia is always present and does not fluctuate throughout the day.
  • Task-specific dystonia only occurs when the person is performing a specific task, such as writing.
  • Diurnal dystonia has peaks of activity or severity in a 24-hour period.
  • Paroxysmal dystonia is triggered by a specific event.

4. Underlying cause

Another way to classify dystonia is by cause:

  • Inherited dystonia is the result of hereditary gene mutations.
  • Primary or idiopathic dystonia has no clear cause.
  • Secondary or acquired dystonia develops due to another disease or condition. Certain medications and toxins can also cause it.

What are the symptoms of dystonia?

All dystonias cause involuntary muscle contractions. This can result in various movements, postures, and body positions. The symptoms of dystonia vary depending on the type of dystonia.

Symptoms can range from mild to severe and may or may not be painful. They can also come and go, be related to a specific activity, or be continuous.

Early stages of dystonia can involve muscle cramps or occasional muscle spasticity or twitching, such as repeated blinking (blepharospasm). With time, irregular movements, postures, and positions become more obvious. These can include jerks of the head or changes in how the person walks. However, not all forms of dystonia progress to become more widespread through the body.

Some people find their symptoms worsen with fatigue or stress. It is also possible for symptoms to get worse or become more noticeable with time.

Possible symptoms of dystonia include: 

  • difficulty chewing or swallowing
  • gait changes or difficulty walking
  • rapid blinking or facial spasms 
  • tremors or cramping
  • twisting or pulling of the head, trunk, or limbs into irregular positions
  • voice changes, slurred speech, or drooling

People with dystonia usually do not have problems with impaired thinking or understanding. However, depression and anxiety are common.

Early on, dystonia symptoms tend to be mild. If you notice irregular movements that you cannot control, see your doctor. Many types of dystonia will progress through stages. A timely diagnosis and treatment can help you make adjustments to manage your daily activities with fewer disabilities.

What causes dystonia?

People who develop dystonia usually have idiopathic dystonia, which means the cause is not known. Events known to lead to dystonia include:

  • brain injury or lack of oxygen during or around the time of birth
  • brain damage
  • carbon monoxide poisoning
  • cerebrovascular events, such as stroke
  • infections
  • drug reactions

Inherited forms of dystonia are caused by gene mutations that parents pass to their children, many of which have been identified. These inherited dystonias often begin in childhood or early adulthood.

Dystonias can also develop due to an underlying condition or a medication. This is secondary dystonia. It shows up as a symptom of another disease or a side effect of a medication.

Conditions that can cause secondary dystonia include Parkinson’s disease, Huntington’s disease, cerebral palsy, multiple sclerosis, stroke, and brain tumor or trauma. Medications Trusted Source PubMed Central Highly respected database from the National Institutes of Health Go to source  that can cause secondary dystonia include certain antidepressants, antipsychotics, and antinausea drugs.

Still, the exact mechanism behind dystonia is not clear. It is thought that damage to the basal ganglia in the brain causes dystonia.

What are the risk factors for dystonia?

A number of factors increase the risk of developing dystonia. However, not all people with risk factors will develop the condition. Risk factors for dystonia include:

  • being exposed to certain toxins, including heavy metals and carbon monoxide
  • having a family genetic predisposition
  • sustaining an injury or infection of the brain
  • taking certain medications

Currently, there is no way of preventing most dystonias. However, if you have a family predisposition, genetic testing may be of interest to you. Testing can identify people at risk of passing the condition to their children. This can help people make decisions about having biological children or not. 

Issues surrounding genetic testing are complex. It is important to work with a genetic counselor if you decide to undergo testing. A counselor can help you fully understand the implications of testing and provide guidance.

There are several conditions that share symptoms with dystonia. Comparing them could help in diagnosing dystonia. Conditions that are similar to dystonia include:

  • essential tremor
  • other movement disorders including tics, chorea, and myoclonus
  • Parkinson’s disease
  • pseudodystonia, a group of conditions similar to dystonia

Genetic disorders related to dystonia include:

  • dentatorubral-pallidoluysian atrophy
  • familial idiopathic basal ganglia calcification
  • Huntington’s disease
  • Lesch-Nyhan syndrome
  • mitochondrial membrane protein-associated neurodegeneration
  • neuroacanthocytosis
  • Rett syndrome
  • Wilson’s disease

How do doctors diagnose dystonia?

Neurologists diagnose dystonia by the patient’s movements, symptom history, and medical history. 

Tests to help diagnose dystonia may include:

  • blood and urine tests to look for infections or toxins
  • cerebrospinal fluid analysis to look for biological markers
  • electromyography to measure the electrical activity in your muscles
  • EEG test to check the brain’s electrical activity
  • genetic testing to check for genes related to inherited conditions 
  • imaging exams, such as an MRI or CT scan, to look for signs of lesions, tumors, stroke, or other abnormalities
  • levodopa trial to see if it improves symptoms

How is dystonia treated?

For medication-related dystonia, the symptoms may resolve if doctors stop the medication quickly. However, there is no cure for other types of dystonia. Instead, treatment aims to improve symptoms.

The goal of treatment is to disrupt communication between the brain and the affected muscles. This can help reduce involuntary contractions and irregular movements and postures.

Dystonia treatment involves a multipronged approach:

  • Botulinum toxin injections prevent muscle contraction. This approach is most effective for focal dystonias. The effect is temporary and requires follow-up injections every 3–4 months.
  • Medications alter the level of brain chemicals or neurotransmitters. Side effects, such as drowsiness and memory problems, may limit the usefulness of this approach. 
  • Physical, occupational, and speech therapy can improve related symptoms. 
  • Surgery may help in severe cases.

The two main types of surgery are deep brain stimulation (DBS) and selective denervation. DBS involves implanting an electrode in the brain and connecting it to a pulse generator in your chest. Electrical pulses to your brain help control movements. Selective denervation cuts specific nerves that supply the contracting muscles.

Doctors may use treatments options alone or in combination. Typically, doctors reserve surgery for dystonias that do not respond to other treatments. Surgery requires a careful discussion of the risks and benefits.

Other treatments that can help some people live more comfortably with the condition include assistive devices, cognitive behavioral therapy, and stress management.

How does dystonia affect quality of life?

Because of the complexity of dystonia, living with the condition can affect more than your physical health. It can also affect your mental health and emotional well-being. As such, it takes a broad approach to manage the condition so you can enjoy a good quality of life.

To help lessen the impact of dystonia in your life:

  • Learn about the condition and its progression.
  • Ask questions about treatment.
  • Nurture social relationships, visit with friends and family, and avoid isolation.
  • Stay active and exercise regularly to benefit both your physical and mental health.
  • Make accomodations when you need extra sleep, relaxation, or extra time to a complete task.
  • Practice meditation and relaxation techniques to reduce stress and anxiety.
  • Seek professional help for stress, anxiety, and depression.
  • Develop a support system of healthcare professionals, family, and friends.
  • Use caution with alternative and complementary treatments.

What are the potential complications of dystonia?

In time, dystonia can affect your ability to do activities of daily living Trusted Source PubMed Central Highly respected database from the National Institutes of Health Go to source , such as bathing, dressing, and eating. It can also lead to disability, pain, and fatigue. All of these things can contribute to depression and social withdrawal in people with dystonia. 

Living and dealing with these complications can be difficult. Friends, family, and support groups play an important role in managing them.

Coping strategies, such as meditation, biofeedback, and other relaxation techniques, can also help. Learning gentle exercises — such as yoga — and balancing activity with rest can bring relief to your muscles and your mind.

In most cases, dystonia does not shorten Trusted Source PubMed Central Highly respected database from the National Institutes of Health Go to source  life expectancy. Dystonia can be a symptom of conditions that affect mortality. However, dystonia itself does not affect survival. 

Summary

Dystonia is a movement disorder that causes involuntary muscle contractions. Dystonia symptoms may include repetitive movements, twisting movements, and irregular postures or body part positions. These movements and postures may or may not be painful.

To diagnose dystonia, doctors rely on symptoms and tests to rule out other related conditions. While there is no cure for dystonia, treatments can help manage the muscle contractions and other symptoms.

Seeing a movement disorder specialist increases the likelihood of an accurate diagnosis and the most up-to-date knowledge about treatment options.

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Medical Reviewer: Shilpa Amin, M.D., CAQ, FAAFP
Last Review Date: 2022 Feb 2
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