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National Organization for Rare Disorders, Inc.
- 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.
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
Dystonia Medical Research Foundation
1 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, Intl SE1 7TP
Tel: 0845 458 6211
Fax: 0845 458 6311
Tel: 0845 458 6322
Pediatric Neurotransmitter Disease Association
PO Box 180622
498 Lillian Court
Delafield, WI 53018
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Dystonia Society
17 Suffolk Lane
Princeton Junction, NJ 08550
For a Complete Report
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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 firstname.lastname@example.org
Last Updated: 1/19/2012
Copyright 2009, 2012 National Organization for Rare Disorders, Inc.