National Organization for Rare Disorders, Inc.
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.
- autosomal dominant dopa-responsive dystonia (DRD
- DYT5 dystonia
- autosomal dominant segawa syndrome
- GTP cyclohydrolase 1-deficient dopa-responsive dystonia
- guanosine triphosphate cyclohydrolase I deficiency
- progressive dystonia with marked diurnal fluctuation
- Segawa disease
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.
Dystonia Medical Research Foundation
1 East Wacker Drive, Suite 2810 East Wacker Drive
Chicago, IL 60601-1905
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
89 Albert Embankment, 2nd Floor
London, SE1 7TP
Pediatric Neurotransmitter Disease Association
28 Prescott Place
Old Bethpage, NY 11804
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Dystonia Society
17 Suffolk Lane
Princeton Junction, NJ 08550
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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
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Last Updated: 1/19/2012
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