What is Dystonia?
Dystonia (“dis toh nee uh”) is a neurological movement disorder whose symptoms include involuntary, prolonged muscle contractions. This happens because the brain sends signals telling muscles to tighten and contract inappropriately. These involuntary muscle contractions can cause twisting, repetitive movements and abnormal positions. The movements or sustained positions can sometimes cause pain. Dystonia can affect any part of the body including limbs, hands, torso (trunk), eyelids, face, neck or vocal cords.
Symptoms of dystonia can begin at any age and vary in severity from relatively minor (symptoms that do not interfere with daily life) to profound (symptoms that impact all areas of daily life). Cognition, intelligence and the senses are not typically affected by dystonia, and dystonia is not fatal. However, dystonia is a chronic disorder. Dystonia only rarely goes away completely, and prognosis can be difficult to predict. Still, there are treatments for dystonia (see “Management/Treatment” section).
Dystonia is the third most common movement disorder after Parkinson’s disease and tremor. Dystonia affects more than 300,000 people in North America. In the majority of cases, the cause of dystonia is unknown, although certain types of dystonia have a genetic factor and may be inherited.
Classifications
Dystonia is a general term that describes a type of movement or position seen in a part of the body. There are three ways that different types of dystonia can be grouped:
- By affected body part(s),
- Age of symptom onset or
- Cause
Classification by Body Part(s)
Focal
A focal dystonia affects only one body part. Examples of focal dystonia include the following.
Blepharospasm
The eyelids are affected and may result in uncontrolled blinking or prolonged eye closure.
Oromandibular dystonia
The muscles around the mouth are affected in oromandibular dystonia.
Spasmodic dysphonia
Spasmodic dysphonia affects the larynx. This causes the voice to be very soft, like a whisper or hoarse and strangled.
Cervical dystonia
Also known as spasmodic torticollis, cervical dystonia affects the neck muscles.
Writer’s cramp or hand dystonia
The hand and arm are affected in writer’s cramp. Writer’s cramp is also a task-specific dystonia, which means that the dystonia is only noticeable in the hand and arm when a person is writing.
Segmental
Segmental dystonia involves two body parts that are next to each other. For example, one or both legs and the trunk, the neck and the trunk or the face and the neck may be affected.
Generalized
This refers to dystonia that affects at least one leg, the trunk and any other body part.
Multifocal
Multifocal dystonia affects two or more body parts that are not next to each other.
Hemidystonia
Hemidystonia describes dystonia on one side of the body.
Classification by Age of Symptom Onset
Early-onset
If symptoms of dystonia begin before the age of 27, the dystonia is usually called early-onset dystonia. When dystonia begins in childhood, it is more likely to be generalized or become generalized.
Late-onset (Adult-onset)
Late-onset or adult-onset dystonia occurs when symptoms
appear after the age of 27. Adult-onset dystonias tend to be focal
and typically do not generalize.
(See classification by cause in the “Causes” section)
These classification systems can be used separately or together to group different types of dystonia. For example: the most common type of dystonia is adult-onset focal dystonia.
Causes
Dystonia occurs when the brain sends inappropriate messages telling muscles to contract or move unexpectedly. The part of the brain that sends messages controlling and coordinating movement is called the basal ganglia. The basal ganglia sends messages to other parts of the brain and to muscles by releasing chemicals called neurotransmitters, such as dopamine. In general, what causes the basal ganglia to send inappropriate messages is not well understood.
In some cases of dystonia, a genetic factor is part of the reason that inappropriate messages are sent. When there is a genetic factor to dystonia, a person has a predisposition for dystonia from birth. Not everyone with a genetic predisposition for dystonia will develop symptoms. In many cases, another factor in addition to the genetic predisposition is needed for symptoms of dystonia to occur.
Sometimes dystonia happens as a direct result of an injury, trauma, infection or tumor. In addition, dystonia can be a symptom of another condition. Dystonia can be a side effect of certain medications such as haloperidol (Haldol®), chlorpromazine (Thorazine®) or metoclopramide (Reglan®).
Dystonia Update Newsletter
The “Dystonia Update” is a newsletter from the laboratories of Xandra O. Breakefield and Nutan Sharma about dystonia research at Massachusetts General Hospital. In the newsletter you will learn about ongoing research projects, answers to commonly asked questions and the people behind dystonia research.
Dystonia Update, Winter 2007 (PDF file)
Dystonia Update, Fall 2006 (PDF file)
DYSTONIA Patient and Family Resources
General Dystonia/ Movement Disorders
Dystonia Medical Research Foundation
One East Wacker Drive, Suite 2430
Chicago, Illinois 60601-1905
Tel: (800) 377-3978
Fax: (312) 803-0138
E-mail: dystonia@dystonia-foundation.org
Website: http://www.dystonia-foundation.org/
The Bachmann-Strauss Dystonia & Parkinson Foundation, Inc.
Fred French Building
551 Fifth Ave (at 45th St.), Suite 520
New York, NY 10176
Tel: (212) 682-9900
Email: Bachmann.Strauss@mssm.edu
Website: http://www.dystonia-parkinsons.org
Worldwide Education and Awareness for Movement Disorders (WE MOVE)
204 West 84th Street
New York, NY 10024
Tel: (800) 437-MOV2
Fax: (212) 875-8389
Email: wemove@wemove.org
Website: www.wemove.org
Care4Dystonia, Inc
Contact: Beka Serdans, RN, NP
440 East 78th Street
New York, NY 10021
Tel: (212) 249-2808
Email: bekadys@aol.com
Website: http://www.care4dystonia.org/
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
Website: http://www.ninds.nih.gov/disorders/the_dystonias/the_dystonias.htm
Blepharospasm
Benign Essential Blepharospasm Research Foundation, Inc.
Contact: Mary Lou Thompson
637 North 7th Street, Suite 102
PO Box 12468
Beaumont, Texas 77726-2468
Tel: (409) 832-0788
Fax: (409) 832-0890
Email: bebrf@belpharospasm.org
Website: http://www.blepharospasm.org/
Spasmodic Torticollis (Cervical Dystonia)
National Spasmodic Torticollis Association
9920 Talbert Avenue #233
Fountain Valley, CA 92708
Tel: 800-487-8385
Email: nstamail@aol.com
Website: http://www.torticollis.org
Spasmodic Torticollis/Dystonia, Inc.
Contact: Howard Thiel
P.O. Box 28
Mukwonago, WI 53149
Tel: (888) 445-4598
Email: info@spasmodictorticollis.org
Website: http://www.spasmodictorticollis.org
Spasmodic Dysphonia (Laryngeal Dystonia)
National Spasmodic Dysphonia Association
Contact: Kimberly Kuman
300 Park Boulevard, Suite 350
Itasca, IL 60143
Tel: (800) 795-6732
Fax: (630) 250-4505
Email: NSDA@dysphonia.org
Web Site: http://www.dysphonia.org
American Speech Language and Hearing Association (ASHA)
2200 Research Boulevard
Rockville, MD 20850-3289
Tel: (800) 638-8255
Email: actioncenter@asha.org
Website: http://www.asha.org
Dopa-Responsive Dystonia
Pediatric Neurotransmitter Disease Association
6 Nathan Drive
Plainview, NY 11803
Tel: 516-937-0049
Email: pnd@pndassoc.org
Website: http://www.pndassoc.org
Dopa-Responsive Dystonia Central
Website: http://www.drdcentral.com
Myoclonus
Moving Forward
Contact: Pauline Dill
2934 Glenmore Avenue
Kettering, OH 45409
Tel: (937) 293-0409
Myoclonus Families United
Contact: Sharon Dobkin
155 E. 35th Street
Brooklyn, NY 11234
Tel: (718) 252-2133
Myoclonus Research Foundation
Contact: Mark Seiden
200 Old Palisade Road, Suite 17D
Fort Lee, NJ 07024
Tel: (201) 585-0770
Fax: (201) 585-8114
Email: research@myoclonus.com
Information on Botulinum Toxin Injections
Allergan Pharmaceuticals
Botox® A manufacturer
Website: www.botoxmedical.com
Solstice Neurosciences, Inc.
Myobloc® B manufacturer
Website: www.myobloc.com/index_pat.html
Information on Deep Brain Stimulation
Medtronic Medical Technology
Activa DBS manufacturer
Website: www.newhopefordystonia.com/about.html
Support Groups and Contacts
Massachusetts Support Group
Ellen Duby
(617) 323-3534
elliemarcia@aol.com
Paula Gates
(978) 774-4682
gates5860@verizon.net
Dystonia-Related Resources within MGH and Boston
MGH Movement Disorders Unit
http://www.massgeneral.org/neurology/movement_disorders/
MGH Neurogenetic DNA Diagnostic Laboratory
http://www.dnalab.org
MGH Department of Neurology
http://www.massgeneral.org/neurology/
MassGeneral Institute for Neurodegenerative Disease (MIND)
http://www.mghmind.org
MGH home page
http://www.mgh.harvard.edu/home.asp
MGH Directions and Parking
http://www.mgh.harvard.edu/directions.html
Boston Weather
http://www.weather.com/weather/local/USMA0046
City of Boston
http://www.cityofboston.gov/default.asp