Health Encyclopedia

 

 

Segawa Syndrome

National Organization for Rare Disorders, Inc.

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.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. 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.