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    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

    • ASPA deficiency
    • aspartoacylase deficiency
    • Canavan's leukodystrophy
    • Canavan-Van Bogaert-Bertrand disease
    • spongy degeneration of the central nervous system
    • Van Bogaert-Bertrand syndrome

    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.

    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
    204
    Brookline, MA 02146-4227
    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

    United Leukodystrophy Foundation
    224 N. 2nd St.
    Suite 2
    DeKalb, IL 60115
    Tel: (815)748-3211
    Tel: (800)728-5483
    Email: office@ulf.org
    Internet: http://www.ulf.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
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Canavan Research Foundation
    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 5823
    Buffalo Grove, IL 60089
    USA
    Tel: (847)222-0736
    Fax: (847)222-0736
    Tel: (800)833-2194
    Email: info@canavanresearch.org
    Internet: http://www.canavanresearch.org

    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
    Internet: http://www.canavanfoundation.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/

    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)502-4249
    Fax: (914)925-3979
    Email: info@jacobscure.org
    Internet: http://www.jacobscure.org

    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: 3/19/2012
    Copyright 1986, 1990, 1994, 1995, 1996, 1998, 2003, 2008, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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