What are the dystonias?
Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body. Some forms of dystonia are genetic but the cause for the majority of cases is not known.
What are the symptoms?
Dystonia can affect many different parts of the body, and the symptoms are different depending upon the form of dystonia. Early symptoms may include a foot cramp or a tendency for one foot to turn or drag—either sporadically or after running or walking some distance—or a worsening in handwriting after writing several lines. In other instances, the neck may turn or pull involuntarily, especially when the person is tired or under stress. Sometimes both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close. Symptoms may also include tremor or difficulties speaking. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. For example, a musician may have dystonia when using her hand to play an instrument, but not when using the same hand to type. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable or widespread; sometimes, however, there is little or no progression. Dystonia typically is not associated with problems thinking or understanding, but depression and anxiety may be present.
What do researchers know about dystonia?
The cause of dystonia is not known. Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. There may be abnormalities in the brain’s ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. There also may be abnormalities in the way the brain processes information and generates commands to move. In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging.
The dystonias can be divided into three groups: idiopathic, genetic, and acquired.
When do symptoms occur?
Dystonia can occur at any age, but is often described as either early, or childhood, onset versus adult onset.
Early-onset dystonia often begins with symptoms in the limbs and may progress to involve other regions. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day.
Adult-onset dystonia usually is located in one or adjacent parts of the body, most often involving the neck and/or facial muscles. Acquired dystonia can affect other regions of the body.
Dystonias often progress through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonia can be associated with fixed postures and shortening of tendons.
How are the dystonias classified?
One way of classifying the dystonias is according to the parts of the body they affect:
There are several different forms of dystonia. Some of the more common focal forms are:
Cervical dystonia, also called spasmodic torticollis, or torticollis, is the most common of the focal dystonias. In torticollis, the muscles in the neck that control the position of the head are affected, causing the head to twist and turn to one side. In addition, the head may be pulled forward or backward. Torticollis can occur at any age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a plateau. About 10 to 20 percent of those with torticollis experience a spontaneous remission, but unfortunately the remission may not be lasting.
Blepharospasm, the second most common focal dystonia, is the involuntary, forcible closure of the eyelids. The first symptoms may be uncontrollable blinking. Only one eye may be affected initially, but eventually both eyes are usually involved. The spasms may leave the eyelids completely closed causing functional blindness even though the eyes and vision are normal.
Cranio-facial dystonia is a term used to describe dystonia that affects the muscles of the head, face, and neck.
Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. The jaw may be pulled either open or shut, and speech and swallowing can be difficult.
Spasmodic dysphonia involves the muscles of the throat that control speech. Also called spastic dysphonia or laryngeal dystonia, it causes strained and difficult speaking or breathy and effortful speech.
Task-specific dystonias are focal dystonias that tend to occur only when undertaking a particular repetitive activity. Examples include writer's cramp that affects the muscles of the hand and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist's cramp, pianist's cramp, and musician's cramp. Musician’s dystonia is a term used to classify focal dystonias affecting musicians, specifically their ability to play an instrument or to perform. It can involve the hand in keyboard or string players, the mouth and lips in wind players, or the voice in singers.
In addition, there are forms of dystonia that may have a genetic cause:
Recently, researchers have identified another genetic cause of dystonia which is due to mutations in the DYT6 gene. Dystonia caused by DYT6 mutations often presents as cranio-facial dystonia, cervical dystonia, or arm dystonia. Rarely, a leg is affected at the onset.
Many other genes that cause dystonic syndromes have been found, and numerous genetic variants are known to date. Some important genetic causes of dystonia include mutations in the following genes: DYT3, which causes dystonia associated with parkinsonism; DYT5 (GTP cyclohydrolase 1), which is associated with dopa-responsive dystonia (Segawa disease); DYT6 (THAP1), associated with several clinical presentations of dystonia; DYT11, which causes dystonia associated with myoclonus (brief contractions of muscles); and DYT12, which causes rapid onset dystonia associated with parkinsonism.
What treatments are available?
Currently, there are no medications to prevent dystonia or slow its progression. There are, however, several treatment options that can ease some of the symptoms of dystonia, so physicians can select a therapeutic approach based on each individual’s symptoms.
What research is being done?
The ultimate goals of research are to find the cause(s) of the dystonias so that they can be prevented, and to find ways to cure or more effectively treat people now affected. The National Institute of Neurological Disorders and Stroke (NINDS), a unit of the Federal Government's National Institutes of Health (NIH), is the agency with primary responsibility for brain and neuromuscular research. NINDS sponsors research on dystonia both in its facilities at the NIH and through grants to medical centers throughout the country. Scientists at the National Institute on Deafness and Other Communication Disorders (NIDCD), also part of the NIH, are studying improved treatments for speech and voice disorders associated with dystonias. The National Eye Institute (NEI) supports work on the study of blepharospasm and related problems (see above) and the National Institute of Child Health and Human Development (NICHD) supports work on dystonia, including the rehabilitation aspects of the disorder.
Scientists at NINDS laboratories have conducted detailed investigations of the patterns of muscle activity, imaging studies of brain activity, and physiological studies of the brain in persons with dystonia.
Treatment studies, using surgery or medication, are being conducted in many centers, including the NIH. To learn more about clinical studies on dystonia, please go to http://www.clinicaltrials.gov/.
Recently, the Dystonia Coalition—a clinical research network for dystonia— has been established with support from the NINDS and the NIH Office of Rare Disease Research as part of the Rare Disease Clinical Research Network. For more information on the clinical studies and patient registry established by the Dystonia Coalition, see http://rarediseasesnetwork.epi.usf.edu/dystonia/.
The search for genes responsible for some forms of dystonia continues. In 1989 a team of researchers mapped a gene for early-onset torsion dystonia to chromosome 9; the gene was subsequently named DYT1. In 1997 the team sequenced the DYT1 gene and found that it codes for a previously unknown protein now called "torsin A." The discovery of the DYT1 gene and the torsin A protein provide the opportunity for prenatal testing, allow doctors to make a specific diagnosis in some cases of dystonia, and permit the investigation of molecular and cellular mechanisms that lead to disease.
The discovery of the mutation in “torsin A’ has enabled scientists to study animal models into which the mutated gene has been introduced. Through research with patients informed by the latest discoveries from genetics and basic neuroscience, scientists and doctors hope to better understand dystonia and find more effective treatments.
Where can I get more information?
American Speech-Language-Hearing Association (ASHA)
2200 Research Boulevard
Rockville, MD 20852-3279
Benign Essential Blepharospasm Research Foundation
637 North 7th Street, Suite 102
P.O. Box 12468
Beaumont, TX 77726
Dystonia Medical Research Foundation
1 East Wacker Drive, Suite 2810
Chicago, IL 60601-1905
National Spasmodic Torticollis Association
9920 Talbert Avenue
Fountain Valley, CA 92708
714-378-9837, 800-HURTFUL (487-8385)
Bachmann-Strauss Dystonia & Parkinson Foundation
Fred French Building 551 Fifth Avenue, at 45th St
New York, NY 10176
Spasmodic Torticollis Dystonia/ST Dystonia
P.O. Box 28
Mukwonago, WI 53149
This information was developed by the National Institute of Neurological Disorders and Stroke, National Institutes of Health.
Office of Communications and Public Liaison, National Institute of Neurological Disorders and Stroke, National Institutes of Health. The Dystonias Fact Sheet. Available at: http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm. Last accessed January 10, 2014.
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