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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.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.