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Segawa Syndrome

National Organization for Rare Disorders, Inc.

Synonyms

Autosomal Dominant Segawa Syndrome
Autosomal Dominant Dopa-Responsive Dystonia (DRD)
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Guanosine Triphosphate Cyclohydrolase I Deficiency
Progressive Dystonia with Marked Diurnal Fluctuation
Segawa Disease

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, 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 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.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: (212)875-8312
Fax: (212)875-8389
Email: wemove@wemove.org
Internet: http://www.wemove.org

Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2430
Chicago, IL 60601-1905
United States
Tel: (312)755-0198
Fax: (312)803-0138
Tel: (800)377-3978
Email: dystonia@dystonia-foundation.org
Internet: http://www.dystonia-foundation.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Dystonia Society
89 Albert Embankment, 1st Floor
Vauxhall
London, Intl SE1 7TP
United Kingdom
Tel: 0845 458 6211
Fax: 0845 458 6311
Tel: 0845 458 6322
Email: angie@dystonia.org.uk
Internet: http://www.dystonia.org.uk

Pediatric Neurotransmitter Disease Association
PO Box 180622
498 Lillian Court
Delafield, WI 53018
Tel: (603)733-8409
Fax: (516)937-0049
Email: pnd@pndassoc.org
Internet: http://www.pndassoc.org

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
TDD: (888)205-3223
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.^® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 2/3/2009
Copyright 2009 National Organization for Rare Disorders, Inc.


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