National Organization for Rare Disorders, Inc.

Canavan Disease

Important
It is possible that the main title of the report Canavan Diseaseis not the name you expected.

Synonyms

• Aspartoacylase Deficiency
• Canavan's Leukodystrophy
• Canavan-Van Bogaert-Bertrand Disease
• Spongy Degeneration of the Central Nervous System
• Van Bogaert-Bertrand Syndrome
• ASPA Deficiency

Disorder Subdivisions

• None

General Discussion

Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age. Symptoms may include an abnormally large head (macrocephaly), lack of head control, severely diminished muscle tone resulting in “floppiness,” and delays in reaching developmental milestones such as independent sitting and walking. Most affected children develop life-threatening complications by 10 years of age. Canavan disease occurs because of defect affecting the breakdown (metabolism) of the N-acetylaspartic acid. It is inherited as an autosomal recessive trait.

Canavan disease belongs to a group of disorders known as the leukodystrophies. The leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that can affect the brain, spinal cord and often the nerves outside the central nervous system (peripheral nerves). Each type of leukodystrophy is caused by an abnormality affecting a specific gene that results in abnormal development of one of at least 10 different chemicals that make up the white matter of the brain. The white matter is tissue composed of nerve fibers. Many of these nerve fibers are covered by a collection of fats (lipids) and proteins known as myelin. Myelin, which collectively may be referred to as the myelin sheath, protects the nerve fibers, acts as an insulator and increases the speed of transmission of nerve signals. Each type of leukodystrophy affects a different part of the myelin sheath, leading a range of different neurological problems.

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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

National Foundation for Jewish Genetic Diseases
250 Park Avenue
Suite 1000
New York, NY 10177
Tel: (212)659-6774
Internet: http://www.nfjgd.org

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/

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/

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

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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:  11/13/2008
Copyright  1986, 1990, 1994, 1995, 1996, 1998, 2003, 2008National Organization for Rare Disorders, Inc.

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