National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dystonia is not the name you expected.
Dystonia is a general term for a large group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). The muscular contractions may be sustained or come and go (intermittent). Movements may be patterned and twisting, and/or in some cases shaking or quivering (tremulous) resembling a tremor. Dystonia may occur or be worsened when an individual attempts a voluntary action. There are many different causes for dystonia. Genetic as well as non-genetic factors can contribute to the development of these disorders. In some cases, the exact, underlying cause is unknown (idiopathic). The most characteristic finding associated with most forms of dystonia is twisting, repetitive movements that affect the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups. Certain forms such as laryngeal dystonia are not associated with abnormal postures. Dystonia causes varying degrees of pain and disability that ranges from mild symptoms that come and go to severe, debilitating symptoms that can significantly affect a person's quality of life. In some cases dystonia can become progressively worse, while in others it remains unchanged or no longer worsens (plateaus). Dystonia may even spontaneously remit in rare cases. Treatment for dystonia depends upon several factors including the specific subtype present and can include medications, botulinum toxin injections, physical therapy and surgery.
Dystonia was first described in the medical literature as far back as the 1800s. However, the classification of dystonia has always been complicated and controversial, resulting in confusion, not only for patients, but within the medical community as well. A new basis for classifying the dystonias has been proposed based on a consensus achieved by an international expert group of physicians (Albanese A, et al. 2013). This group has proposed to classify dystonia based on two axes: clinical features and etiology.
Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features. Age of onset is broken down into infancy (birth to 2 years), childhood (3-12 years), adolescence (13-20), early adulthood (21-40), and late adulthood (greater than 40 years). Dystonia that develops during infancy or childhood is more likely to have a known cause and to progress to become widespread.
Classifying dystonia by the specific body part(s) affected is common to many classification systems. Generally, dystonia may be focal (affecting an isolated body part), segmental (affecting adjacent body areas), multifocal (two or more noncontiguous areas), generalized (affecting the trunk and two other body regions), and hemidystonia (affecting one side of the body).
Temporal pattern helps to distinguish between dystonia that becomes progressively worse or remains unchanged (static). It also refers to the variability in disease expression in relation to other factors such as external triggers or voluntary actions. Temporal patterns can be broken down into four types: persistent, in which dystonia persists throughout the day without fluctuation; task-specific, in which dystonia occurs only during a specific action or task (e.g. writer's cramp); diurnal fluctuations; in which dystonia fluctuates in severity at certain points throughout the day and often lessens during the night; and paroxysmal in which a sudden, temporary episode of dystonia occurs often as the result of a specific trigger.
Dystonia can also be classified by whether or not dystonia occurs along with another movement disorder. Isolated dystonia is when dystonia is the only motor feature with the exception of tremor. Combined dystonia is used when another movement disorder such as parkinsonism or myoclonus is also present.
The etiology axis refers to whether degenerative changes or structural damage is present in the nervous system (nervous system pathology) and whether the disorder is inherited or acquired, or whether the underlying cause is unknown or unproven (idiopathic).
The use of this new classification would deemphasize much of the current terminology used in describing dystonia. Some of the current terminology would be rendered obsolete. Current terminology used to categorize dystonia includes primary dystonia, secondary dystonia, dystonia plus syndromes, and heredodegenerative dystonia. Primary dystonia referred to cases in which dystonia was the only clinical features (isolated dystonia), there was no evidence of brain degeneration, and without an acquired cause. Primary dystonia may be inherited or occur for unknown reasons (idiopathic). Secondary dystonia referred to cases in which dystonia resulted from a broad range of causes including genetic mutations, birth injury, stroke, brain tumors, certain infections, and as a reaction to certain drugs. Dystonia plus syndromes referred to disorders in which dystonia occurred in conjunction with another neurological disorder such as myoclonus or parkinsonism. Heredodegenerative dystonia referred to hereditary cases that were associated with neurodegeneration and occur with other neurological symptoms.
Until a consistent, straightforward classification system is adopted by the medical community confusion regarding terminology in describing dystonia will persist. In addition, dystonia is a rapidly growing disease family and information about these disorders is constantly changing.
American Dystonia Society
- 17 Suffolk Lane
- Suite 1
- Princeton Junction, NJ 08550
- Tel: 310-237-5478
- Fax: 609-275-5663
- Email: firstname.lastname@example.org
- Website: http://www.dystonia.us
Bachmann-Strauss Dystonia & Parkinson Foundation
- c/o P.O. Box 38016
- Albany, NY 12203
- Tel: (212) 509-0995 x204
- Fax: (212)682-6156
- Email: email@example.com
- Website: http://www.dystonia-parkinson.org
Child Neurology Foundation
- 201 Chicago Ave, #200
- Minneapolis, MN 55415
- Tel: (952)641-6100
- Fax: (952)881-6276
- Tel: (877)263-5430
- Email: firstname.lastname@example.org
- Website: http://www.childneurologyfoundation.org
- Square de Meeus 37 - 4th Floor
- Brussels, 1000
- Tel: 447736625450
- Email: email@example.com
- Website: http://www.dystonia-europe.org
Dystonia Medical Research Foundation
- 1 East Wacker Drive, Suite 2810 East Wacker Drive
- Suite 2810
- Chicago, IL 60601-1905
- United States
- Tel: (312)755-0198
- Fax: (312)803-0138
- Tel: (800)377-3978
- Email: firstname.lastname@example.org
- Website: http://www.dystonia-foundation.org
- 89 Albert Embankment, 2nd Floor
- London, SE1 7TP
- United Kingdom
- Tel: 8454586211
- Fax: 8454586311
- Tel: 8454586322
- Email: email@example.com
- Website: http://www.dystonia.org.uk
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Movement Disorder Society
- 555 E. Wells Street
- Suite 1100
- Milwaukee, WI 53202-3823
- Tel: (414)276-2145
- Fax: (414)276-3349
- Email: firstname.lastname@example.org
- Website: http://www.movementdisorders.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 7/30/2015
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