Canavan Disease

Important
It is possible that the main title of the report Canavan Disease 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

ACY2 Deficiency
Aminoacylase-2 Deficiency
Aspartoacylase Deficiency
Canavan's Leukodystrophy
Canavan-Van Bogaert-Bertrand Disease
Spongy Degeneration of the Central Nervous System
Spongy Degeneration of the Neuroaxis
Van Bogaert-Bertrand Syndrome
ASP Deficiency
ASPA Deficiency

Disorder Subdivisions

None

General Discussion

Canavan disease is a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system). Physical symptoms that appear in early infancy may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally large head (macrocephaly), and/ or irritability. Physical symptoms appear in early infancy and usually progress rapidly. Canavan disease is caused by an abnormality in the ASPA gene that leads to a deficiency of the enzyme aspartoacylase. Canavan disease is inherited as an autosomal recessive genetic disorder.
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Resources

Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Tel: (443)923-9200
Fax: (443)923-9405
Tel: (800)873-3377
TDD: (443)923-9400
Email: webmaster@kennedykrieger.org
Internet: http://www.kennedykrieger.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: 6172774463
Fax: 6172770134
Tel: 8009068723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: (815)895-3211
Fax: (815)895-2432
Tel: (800)728-5483
Email: office@ulf.org
Internet: http://www.ulf.org/

ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou, 54520
France
Tel: 33 383 30 93 34
Fax: 33 383 30 00 68
Email: ela@ela-asso.com
Internet: http://www.ela-asso.com

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Hunter's Hope Foundation, Inc.
PO Box 643
3859 N. Buffalo Street
Orchard Park, NY 14127
Tel: (716)667-1200
Fax: (716)667-1212
Tel: (877)984-4673
Email: info@huntershope.org
Internet: http://www.huntershope.org

Canavan Research Foundation
Fieldstone Plaza
88 Rt. 37
New Fairfield, CT 06812
Tel: (203)746-2436
Fax: (203)746-3205
Email: info@canavan.org
Internet: http://www.canavan.org

Canavan Research Illinois
P.O. Box 8194
Rolling Meadows, IL 60008-8194
USA
Tel: 8472220736
Fax: 8472220736
Tel: 8008332194
Email: canavan@canavanresearch.org
Internet: http://www.canavanresearch.org

Canavan Foundation
450 West End Avenue, #10C
New York, NY 10024
USA
Tel: 2128734640
Fax: 2128737892
Tel: 8774226282
Email: info@canavanfoundation.org
Internet: http://www.canavanfoundation.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

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: 10/12/2007
Copyright 1986, 1990, 1994, 1995, 1996, 1998, 2003, 2007 National Organization for Rare Disorders, Inc.

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