Important It is possible that the main title of the report Batten 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.
Neuronal Ceroid Lipofuscinosis, Juvenile
Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.
The symptoms of Batten disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration develop. In some cases, initial symptoms may be more vague and include clumsiness, balance problems and behavioral or personality changes. Batten disease is inherited as an autosomal recessive trait and occurs most in families of Northern European or Scandinavian ancestry and is found worldwide.
For years, the term Batten disease was used to describe the chronic juvenile form of NCL (JNCL). Recently, some researchers have begun using the term Batten disease to encompass all types of neuronal ceroid lipofuscinoses.
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Batten Disease Support and Research Association 1175 Dublin Road. Columbus, OH 43215 USA Tel: (866)648-8718 Email: firstname.lastname@example.org Internet: http://www.bdsra.org
Children's Brain Diseases Foundation 350 Parnassus Avenue Suite 900 San Francisco, CA 94117 USA Tel: (415)665-3003 Fax: (415)665-3003 Email: email@example.com
National Association for Parents of Children with Visual Impairments (NAPVI) P.O. Box 317 Watertown, MA 02272-0317 Tel: (617)972-7441 Fax: (617)972-7444 Tel: (800)562-6265 Email: firstname.lastname@example.org Internet: http://www.napvi.org
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National Pediatric Myoclonus Center P.O. Box 19643 Springfield, IL 62794-9643 USA Tel: (217)545-7635 Fax: (217)545-1903 Email: email@example.com Internet: http://www.omsusa.org
National Batten Disease Registry New York Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Rd Staten Island, NY 10314 USA Tel: (718)494-5201 Fax: (718)982-6346 Tel: (800)952-9628 Email: BattenKW@aol.com
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Last Updated: 9/23/2007 Copyright 1986, 1987, 1988, 1990, 1993, 1996, 1997, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.
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