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    Segawa Syndrome

    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.

    Synonyms

    • 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

    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, 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.

    Resources

    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: wemove@wemove.org
    Internet: http://www.wemove.org

    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: 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
    Internet: http://www.ninds.nih.gov/

    Dystonia Society
    89 Albert Embankment, 2nd Floor
    Vauxhall
    London, SE1 7TP
    United Kingdom
    Tel: 08454586211
    Fax: 08454586311
    Tel: 08454586322
    Email: angie@dystonia.org.uk
    Internet: http://www.dystonia.org.uk

    Pediatric Neurotransmitter Disease Association
    28 Prescott Place
    Old Bethpage, NY 11804
    Tel: (603)733-8409
    Email: pndassociation@aol.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: 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 (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 orphan@rarediseases.org

    Last Updated: 1/19/2012
    Copyright 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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