Canavan Disease

National Organization for Rare Disorders, Inc.

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

  • 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: info@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: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Internet: http://www.NTSAD.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

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)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@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: (847)222-0736
Fax: (847)222-0736
Tel: (800)833-2194
Email: canavan@canavanresearch.org
Internet: http://www.canavanresearch.org

Canavan Foundation
450 West End Avenue, #10C
New York, NY 10024
USA
Tel: (212)873-4640
Fax: (212)873-7892
Tel: (877)422-6282
Email: info@canavanfoundation.org
Internet: http://www.canavanfoundation.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Jacob’s Cure
PO Box 52
Rye, NY 10580
Tel: (914)673-2796
Fax: (914)925-3979
Email: info@jacobscure.org
Internet: http://www.jacobscure.org

For a Complete Report

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

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