National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Segawa Syndrome is not the name you expected.
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.
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
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: email@example.com
- Website: http://www.dystonia-foundation.org
- 89 Albert Embankment, 2nd Floor
- London, SE1 7TP
- United Kingdom
- Tel: 8454586211
- Fax: 8454586311
- Tel: 8454586322
- Email: firstname.lastname@example.org
- 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 email@example.com
- 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: firstname.lastname@example.org
- 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
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