National Organization for Rare Disorders, Inc.
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.
Synonyms Back to top
- Neuronal Ceroid Lipofuscinosis, Juvenile
- Spielmeyer-Sjogren Disease
- Vogt-Spielmeyer Disease
- Vogt-Spielmeyer-Sjogren Disease
Disorder Subdivisions Back to top
General Discussion Back to top
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.
Resources Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brookline, MA 02146-4227
1660 L Street, NW, Suite 301
Washington, DC 20036
Batten Disease Support and Research Association
166 Humphries Dr
Reynoldsburg, OH 43068
Children's Brain Diseases Foundation
350 Parnassus Avenue
San Francisco, CA 94117
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
National Pediatric Myoclonus Center
P.O. Box 19643
Springfield, IL 62794-9643
National Batten Disease Registry
New York Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Rd
Staten Island, NY 10314
Lysosomal Diseases New Zealand
16 Woodleigh Place
Tauranga, Intl 6008
Tel: 07 544-8868
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
c/o Sara E Mole PhD
MRC Laboratory for Molecular Cell Biology
University College London
London, WC1E 6BT
Tel: 44 207 679 7257
Fax: 44 207 679 7805
Beyond Batten Disease Foundation
P.O. Box 200998
Austin, TX 78720
For a Complete Report Back to top
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: 9/23/2007
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