Segawa Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Segawa Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia. Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). Dystonia in Segawa syndrome usually affects the legs, but some children may first develop dystonia in the arms. In some cases, usually in adolescents and adults, the symptoms of Segawa syndrome may become noticeably worse or more pronounced in the afternoon and evening than in the morning (marked diurnal fluctuation). The symptoms of Segawa syndrome usually become apparent by around six years of age. Intelligence is not affected. Children with Segawa syndrome usually show a dramatic and sustained improvement when treated with levodopa. Levodopa is an amino acid that is converted to dopamine, a brain chemical that serves as a neurotransmitter. Dopamine is deficient in children with Segawa syndrome. The disorder is caused by mutations of the GCH-1 gene. The GCH-1 gene mutation is inherited as an autosomal dominant trait.

Supporting Organizations

American Dystonia Society

17 Suffolk Lane
Suite 1
Princeton Junction, NJ 08550
Tel: 310-237-5478
Fax: 609-275-5663
Email: info@dystonia.us
Website: http://www.dystonia.us

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: dystonia@dystonia-foundation.org
Website: http://www.dystonia-foundation.org

Dystonia Society

89 Albert Embankment, 2nd Floor
Vauxhall
London, SE1 7TP
United Kingdom
Tel: 8454586211
Fax: 8454586311
Tel: 8454586322
Email: angie@dystonia.org.uk
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/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.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/

Pediatric Neurotransmitter Disease Association

28 Prescott Place
Old Bethpage, NY 11804
Tel: (603)733-8409
Email: pndassociation@aol.com
Website: http://www.pndassoc.org

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:  7/9/2015
Copyright  2015 National Organization for Rare Disorders, Inc.