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.
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brookline, MA 02146-4227
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Canavan Research Foundation
88 Rt. 37
New Fairfield, CT 06812
Canavan Research Illinois
P.O. Box 5823
Buffalo Grove, IL 60089
450 West End Avenue, #6A
New York, NY 10024
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
PO Box 52
Rye, NY 10580
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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".
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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
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Last Updated: 3/19/2012
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