Important It is possible that the main title of the report Segawa Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
guanosine triphosphate cyclohydrolase I deficiency
progressive dystonia with marked diurnal fluctuation
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.
WE MOVE (Worldwide Education and Awareness for Movement Disorders) 5731 Mosholu Avenue Bronx, NY 10471 USA Tel: (347)843-6132 Fax: (718)601-5112 Email: email@example.com 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: firstname.lastname@example.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: email@example.com Internet: http://www.ninds.nih.gov/
Dystonia Society 89 Albert Embankment, 2nd Floor Vauxhall London, Intl SE1 7TP United Kingdom Tel: 0845 458 6211 Fax: 0845 458 6311 Tel: 0845 458 6322 Email: firstname.lastname@example.org 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: email@example.com 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 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: firstname.lastname@example.org Internet: http://www.dystonia.us
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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 email@example.com
Last Updated: 1/19/2012 Copyright 2009, 2012 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.