Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Segawa Syndrome


Synonyms of Segawa Syndrome
  • Autosomal Dominant Dopa-Responsive Dystonia (DRD)
  • 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



    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.

    Organizations related to Segawa Syndrome
    • Dystonia Medical Research Foundation
      1 East Wacker Drive
      Chicago IL 60601-1905
      Phone #: 312-755-0198
      800 #: 800-377-3978
      e-mail: dystonia@dystonia-foundation.org
      Home page: http://www.dystonia-foundation.org
    • Dystonia Society
      89 Albert Embankment
      London Intl SE1 7TP
      Phone #: 084-5 4-58 6211
      800 #: 084-5 4-58 6322
      e-mail: info@dystonia.org.uk
      Home page: http://www.dystonia.org.uk
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • Pediatric Neurotransmitter Disease Association (PND Association)
      6 Nathan Drive
      Plainview NY 11803
      Phone #: 516-937-0049
      800 #: --
      e-mail: PND@PNDAssoc.org
      Home page: http://www.pndassoc.org
    • WE MOVE (Worldwide Education and Awareness for Movement Disorders)
      204 West 84th Street
      New York NY 10024
      Phone #: 212-875-8312
      800 #: N/A
      e-mail: wemove@wemove.org
      Home page: http://www.wemove.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). 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