Diseases & Conditions


Canavan Disease

Synonyms of Canavan Disease
  • 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

    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.


    Organizations related to Canavan Disease
    • Canavan Foundation
      450 West End Avenue, #10C
      New York NY 10024
      Phone #: 212-873-4640
      800 #: 877-422-6282
      e-mail: [email protected]
      Home page: http://www.canavanfoundation.org
    • Canavan Research Foundation
      Fieldstone Plaza
      New Fairfield CT 06812
      Phone #: 203-746-2436
      800 #: --
      e-mail: [email protected]
      Home page: http://www.canavan.org
    • Canavan Research Illinois
      P.O. Box 8194
      Rolling Meadows IL 60008-8194
      Phone #: 847-222-0736
      800 #: 800-833-2194
      e-mail: [email protected]
      Home page: http://www.canavanresearch.org
    • Kennedy Krieger Institute
      707 North Broadway
      Baltimore MD 21205
      Phone #: 443-923-9200
      800 #: 800-873-3377
      e-mail: [email protected]
      Home page: http://www.kennedykrieger.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: [email protected]
      Home page: http://www.marchofdimes.com
    • National Foundation for Jewish Genetic Diseases
      250 Park Avenue
      New York NY 10177
      Phone #: 212-659-6774
      800 #: --
      e-mail: N/A
      Home page: http://www.nfjgd.org
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: [email protected]
      Home page: http://www.ninds.nih.gov/
    • National Tay-Sachs and Allied Diseases Association, Inc.
      2001 Beacon Street
      Brighton MA 02135
      Phone #: 617-277-4463
      800 #: 800-906-8723
      e-mail: [email protected]
      Home page: http://www.NTSAD.org
    • United Leukodystrophy Foundation
      2304 Highland Drive
      Sycamore IL 60178
      Phone #: 815-895-3211
      800 #: 800-728-5483
      e-mail: [email protected]
      Home page: http://www.ulf.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