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.
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.
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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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
Jacob's Cure PO Box 52 Rye, NY 10580 Tel: (914)502-4249 Fax: (914)925-3979 Email: email@example.com Internet: http://www.jacobscure.org
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