National Organization for Rare Disorders, Inc.
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.
- ASPA deficiency
- aspartoacylase deficiency
- Canavan's leukodystrophy
- Canavan-Van Bogaert-Bertrand disease
- spongy degeneration of the central nervous system
- Van Bogaert-Bertrand syndrome
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.
- 450 West End Avenue, #6A
- New York, NY 10024
- Tel: (212)873-4640
- Fax: (212)873-7892
- Tel: (877)422-6282
- Email: firstname.lastname@example.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: email@example.com
- Website: http://www.canavan.org
Canavan Research Illinois
- P.O. Box 5823
- Buffalo Grove, IL 60089
- Tel: (847)222-0736
- Fax: (847)222-0736
- Tel: (800)833-2194
- Email: firstname.lastname@example.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: email@example.com
- Website: http://www.jacobscure.org
Kennedy Krieger Institute
- 707 North Broadway
- Baltimore, MD 21205
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- Fax: (443)923-9405
- Tel: (800)873-3377
- Email: firstname.lastname@example.org
- Website: http://www.kennedykrieger.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
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
- Brookline, MA 02146-4227
- Tel: (617)277-4463
- Fax: (617)277-0134
- Tel: (800)906-8723
- Email: email@example.com
- 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: firstname.lastname@example.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). 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 email@example.com
Last Updated: 1/8/1970
Copyright 2015 National Organization for Rare Disorders, Inc.
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