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Articles » NINDS Dystonias Information Page: NINDS
 

NINDS Dystonias Information Page: NINDS

Article title: NINDS Dystonias Information Page: NINDS

Conditions: Dystonias


What is Dystonias?
The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Early symptoms may include a deterioration in handwriting after writing several lines, foot cramps, and a tendency of one foot to pull up or drag after running or walking some distance. Other possible symptoms are tremor and voice or speech difficulties. Birth injury (particularly due to lack of oxygen), certain infections, reactions to certain drugs, heavy-metal or carbon monoxide poisoning, trauma, or stroke can cause dystonic symptoms. About half the cases of dystonia have no connection to disease or injury and are called primary or idiopathic dystonia. Of the primary dystonias, many cases appear to be inherited in a dominant manner. Dystonias can also be symptoms of other diseases, some of which may be hereditary. In some individuals, symptoms of a dystonia appear in childhood between the ages of 5 and 16, usually in the foot or in the hand. For other individuals, the symptoms emerge in late adolescence or early adulthood.

Is there any treatment?
No one treatment has been found universally effective. Instead, physicians use a variety of therapies (medications, surgery and other treatments such as physical therapy, splinting, stress management, and biofeedback), aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among patients and even in the same person over time, the most effective therapy is often individualized.

What is the prognosis?
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 and widespread and be unrelenting; sometimes, however, there is little or no progression.

What research is being done?
Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists suspect a defect in the body's ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias 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."

 Organizations

American Speech Language Hearing Association (ASHA)
10801 Rockville Pike
Rockville, MD 20852-3279
actioncenter@asha.org
https://www.asha.org/
Tel: 301-897-5700 800-638-8255
Fax: 301-571-0457

Benign Essential Blepharospasm Research Foundation, Inc.
637 North 7th Street Suite 102
P.O. Box 12468
Beaumont, TX 77726-2468
bebrf@ih2000.net
https://www.blepharospasm.org/
Tel: 409-832-0788
Fax: 409-832-0890

Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2430
Chicago, IL 60601-1905
dystonia@dystonia-foundation.org
https://www.dystonia-foundation.org/
Tel: 312-755-0198
Fax: 312-803-0138

National Foundation for Jewish Genetic Diseases
250 Park Avenue
c/o Suite 1000
New York, NY 10177
https://www.nfjgd.org/
Tel: 212-371-1030

National Spasmodic Torticollis Association
9920 Talbert Avenue
Suite 233
Fountain Valley, CA 92708
NSTAmail@aol.com
https://www.torticollis.org/
Tel: 714-378-7837 800-HURTFUL (487-8385)
Fax: 714-378-7830

Tardive Dyskinesia/ Tardive Dystonia National Association
P.O. Box 45732
Seattle, WA 98145-0732
skjaer@halcyon.com
Tel: 206-522-3166
Fax: 206-528-2117

Worldwide Education & Awareness for Movement Disorders (WE MOVE)
204 West 84th Street
New York, NY 10024
wemove@wemove.org
https://www.wemove.org/
Tel: 800-437-MOV2 (6682) 212-875-8312
Fax: 212-875-8389

Related NINDS Publications and Information

  • Tardive Dyskinesia
    Tardive dyskinesia information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
  • The Dystonias
    Dystonias fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
  • DMRF/NINDS Dystonia Workshop - “From Gene to Function in Dystonia”
    Health Disparities Working Group: Cognitive and Emotional Health in Minority Children Workshop From Gene to Function in Dystonia
  • Classification and Definition of Disorders causing Hypertonia in Childhood
    Consensus report of a meeting on hypertonia in childhood, April 22-24, 2001.

    This fact sheet is in the public domain. You may copy it.Provided by:
    The National Institute of Neurological Disorders and Stroke
    National Institutes of Health
    Bethesda, MD 20892


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