Canavan Disease

National Organization for Rare Disorders, Inc.

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

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 mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA). It is inherited as an autosomal recessive condition.
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.

Supporting Organizations

Canavan Foundation

450 West End Avenue, #6A
New York, NY 10024
USA
Tel: (212)873-4640
Fax: (212)873-7892
Tel: (877)422-6282
Email: info@canavanfoundation.org
Website: http://www.canavanfoundation.org

Canavan Research Foundation

88 Rt. 37
New Fairfield, CT 6812
Tel: (203)746-2436
Fax: (203)746-3205
Email: info@canavan.org
Website: http://www.canavan.org

Canavan Research Illinois

P.O. Box 5823
Buffalo Grove, IL 60089
USA
Tel: (847)222-0736
Fax: (847)222-0736
Tel: (800)833-2194
Email: info@canavanresearch.org
Website: http://www.canavanresearch.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
Website: http://rarediseases.info.nih.gov/GARD/

Jacob's Cure (Deleted)

PO Box 52
Rye, NY 10580
Tel: (914)502-4249
Fax: (914)925-3979
Email: info@jacobscure.org
Website: http://www.jacobscure.org

Kennedy Krieger Institute

707 North Broadway
Baltimore, MD 21205
Tel: (443)923-9200
Fax: (443)923-9405
Tel: (800)873-3377
Email: info@kennedykrieger.org
Website: http://www.kennedykrieger.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

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

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Website: http://www.NTSAD.org

United Leukodystrophy Foundation

224 N. 2nd St.
Suite 2
DeKalb, IL 60115
Tel: (815)748-3211
Tel: (800)728-5483
Email: office@ulf.org
Website: http://www.ulf.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  5/15/2015
Copyright  2015 National Organization for Rare Disorders, Inc.