What is dystonia?
Dystonia is a neurological disorder that causes muscles to move or tighten on their own, outside of a person’s control. These involuntary movements can lead to slow, repetitive movements or unusual body positions. These movements can be uncomfortable.
There are several different types of dystonia. Some types affect only one muscle or body part, while other types affect groups of muscles or muscles throughout the body. Dystonia symptoms can in some cases be life-threatening.
Some types of dystonia run in families. Dystonia can also occur due to an unrelated health problem.
Symptoms of dystonia
Dystonia symptoms can vary from person to person, depending on which muscles or body parts are affected or the health problem causing the dystonia symptoms. They may include:
A person with dystonia may have mild symptoms at first, which are only noticeable when the person is stressed or tired. Some people with dystonia have symptoms that don’t change much, while others have symptoms that get worse over time.
Sometimes a person with dystonia will only have symptoms while doing specific things. For example, a musician may have dystonia when he uses one hand to play the piano, but not when he uses the same hand to type on a keyboard.
Dystonia can occur at any age, which can affect which symptoms a person has. Dystonia that begins in childhood is called early-onset dystonia. It usually starts in the arms and legs and can spread to other parts of the body. A child’s symptoms may occur after physical activity and may change throughout the day.
People who develop dystonia in adulthood (adult-onset dystonia) often have symptoms involving neck and facial muscles, but symptoms can also affect other parts of the body.
Causes of dystonia
Dystonia is caused by changes in how the brain tells the body to move. Dystonia can be classified in different ways, but it is often grouped by cause: for example, idiopathic, genetic, acquired (otherwise known as secondary dystonia) or neuroanatomical dystonia.
Idiopathic dystonia does not have a known cause. Many cases of dystonia are of this type.
Genetic dystonia runs in families. Variants (also called mutations) in a small group of specific genes cause genetic dystonia. Examples include DYT1 dystonia and dopa-responsive dystonia. Symptoms of genetic dystonia can be different for each person, even among members of the same family. Sometimes a person who inherits one of these dystopia gene variants has no symptoms.
Acquired dystoniaalso known as secondary dystonia, happens when the brain is damaged or diseased. Many movement disorders and neurological conditions cause this type of dystonia:
Acquired dystonia usually does not spread to other parts of the body. Symptoms often stop getting worse.
Neuroanatomical dystonia is defined by the presence of abnormal or damaged tissue (lesion). For example, it occurs when damage to a specific brain area, such as the basal ganglia, thalamus, or brainstem, disrupts the signals that tell the muscles how to move. Doctors can often see this damage on a brain scan.
Types of dystonia
The many types of dystonia are named according to how much of the body they affect:
- Generalized dystonia affects most or the entire body
- Focal dystonia affects a specific part of the body
- Multifocal dystonia affects two or more unrelated body parts
- Segmental dystonia affects two or more parts of the body that are next to each other
- Hemidystonia affects one arm and one leg on the same side of the body
Each of these types of dystonia may also include other types of dystonia. e.g. focal dystonia may include:
- Cervical dystonia is the most common focal dystonia. It affects a person’s neck muscles, causing the head to turn or pull in a certain direction. Cervical dystonia can occur at any age, although for most people it does not occur until mid-life. It often starts slowly and then stays the same over a few months or years. About 10% of people with cervical dystonia may have no symptoms for a period of time. But the symptoms often return eventually.
- Blepharospasm is the second most common type of focal dystonia. It affects muscles that cause a person’s eyes to blink. At first, both eyes blink more than usual. Sudden muscle twitches or tightening can cause a person’s eyelids to close completely. This can cause vision loss, even if the eyes are otherwise healthy.
- Spasmodic dysphoniaalso called laryngeal dystonia, affects muscles that control a person’s vocal cords, making it difficult to speak.
- Task-specific dystonia occurs during certain repetitive actions and is usually named after the activity involved. For example, “writer’s cramp” only affects a person’s hand or forearm muscles when they are writing. “Musician’s dystonia” occurs when a person tries to play an instrument and can affect their hands, mouth, lips or voice. “Yips” are a type of task-specific dystonia that causes a person’s hands or arms to jerk during precise movements, such as golf putting or throwing a baseball.
Some types multifocal dystonia also have specific names. The following are common examples of multifocal dystonia:
- Craniocervical dystonia affects the muscles of the head, face and neck.
- Oromandibular dystonia affects the muscles of the jaw, lips and tongue. It can make it difficult to open and close the jaw, affecting speech or swallowing.
Who is more likely to get dystonia?
Dystonia can happen to anyone at any age. However, some types of dystonia are more likely to affect women than men. Some types of dystonia run in families. Genetic testing can help a person understand their risk of developing genetic dystonia.
People with some neurological conditions or who take certain medications may also be at a higher risk of developing dystonia. People with conditions such as cerebral palsy, Huntington’s diseaseand Parkinson’s disease may develop dystonia as another symptom.
How is dystonia diagnosed and treated?
Diagnosing dystonia
Doctors diagnose dystonia based on physical and neurological examinations, a person’s personal and family medical history, laboratory tests, tests that record electrical signals made by muscles, and other tests to rule out any condition that could cause symptoms similar to dystonia.
Doctors can also use brain scans such as MRI (magnetic resonance imaging), but some people with dystonia do not have changes in the brain that can be detected this way. Genetic testing can determine whether a person has a gene variant that can cause dystonia.
Learn more about neurological diagnostic tests and procedures.
Treatment of dystonia
Few treatments can stop dystonia or prevent it from getting worse. But treatments such as botulinum toxin injections, medications, surgery, and physical therapy can help manage specific dystonia symptoms.
Botulinum toxin injections
Botulinum toxin injections are often the most effective treatment for focal dystonia and help reduce uncontrolled muscle movements. People who receive botulinum injections typically experience relief within days of treatment that can last for months. The drug daxibotulinumtoxinA-lanm (Daxxify) is a form of botulinum injection that lasts longer between injections for some people with cervical dystonia.
Surgery
Some surgeries can help people with dystonia when other treatments don’t work. One possibility is deep brain stimulation (DBS), when a surgeon inserts tiny electrodes into parts of a person’s brain that cause dystonia symptoms.
Another small device inside a person’s chest acts as a pacemaker to control the brain implant by sending and fine-tuning electrical signals to the brain and relieving symptoms. NINDS-funded researchers are also testing ultrasound as a way to treat the brain without surgery or wires.
Physiotherapy
Physiotherapy can be helpful for people with dystonia by using splints that hold parts of the body in a comfortable position. Learning to manage stress can help people with certain types of dystonia.
Biofeedback can also help by showing people body signals (like heart rate or muscle tension) so they can learn to control them. Speech therapy can help people with voice problems from dystonia, and occupational therapy can help them find easier ways to carry out daily activities.
What are the latest updates on dystonia?
National Institutes of Health (NIH), which includes NINDSis the leading federal funder of research into the brain and nervous system, including disorders such as dystonia. NIH supports new and innovative research to better understand, diagnose and treat dystonia.
NINDS-funded research is learning about specific types of dystonia to help develop new treatments. These include:
- How the immune system affects cervical dystonia.
- Studies of mice that have dystonia symptoms to better understand genetic dystonia (DYT1).
- Developing better ways to diagnose and measure eye blinking problems in blepharospasm.
- Improvements in DBS surgery for dystonia. For example, one study learned that using DBS to stimulate some parts of the brain worked better than others for certain types of dystonia.
- What goes wrong in brain cells to cause dystonia symptoms. This information can help predict who is at risk and inform future treatments.
- How physical therapy for cervical dystonia affects the brain. This can help explain why physical therapy works for some people and improve treatments for others.
For more information on dystonia research, check out NIH REPORTERa searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects.
For research articles and abstracts on dystonia, search PubMedwhich contains citations from medical journals and other websites.
How can I or my loved one help improve care for people with dystonia?
Consider participating in a clinical trial so clinicians and scientists can learn more about dystonia and related disorders. Clinical research with human study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of participants are needed – those who are healthy or may have an illness or disease – of all different ages, genders, races and ethnicities. This helps ensure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research, visit NINDS Clinical Trials site and NIH Clinical Research Trials and you. Learn about clinical trials currently looking for people with dystonia on ClinicalTrials.gova searchable database of current and past clinical studies and research results.
