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Diseases

Genetic and Rare Diseases Information Center (GARD)

Juvenile-onset dystonia


Other Names for this Disease
  • Dystonia, juvenile-onset
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Overview

Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases.[1][2] Changes (mutations) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition.[1] Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.[3][2]
Last updated: 4/1/2016

References

  1. DYSTONIA, JUVENILE-ONSET. OMIM. September 2015; http://www.omim.org/entry/607371.
  2. Elizabeth A Moberg-Wolff, MD. Dystonias. Medscape Reference. November 2014; http://emedicine.medscape.com/article/312648-overview#a1.
  3. Dystonias Fact Sheet. National Institute of Neurological Disorders and Stroke. February 2016; http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile-onset dystonia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dystonia, juvenile-onset
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.