Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Batten Disease

    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.

    Synonyms

    • CLN3
    • JNCL
    • Neuronal Ceroid Lipofuscinosis, Juvenile
    • Spielmeyer-Sjogren Disease
    • Vogt-Spielmeyer Disease
    • Vogt-Spielmeyer-Sjogren Disease

    Disorder Subdivisions

    • None

    General Discussion

    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

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    204
    Brookline, MA 02146-4227
    USA
    Tel: (617)277-4463
    Fax: (617)277-0134
    Tel: (800)906-8723
    Email: info@ntsad.org
    Internet: http://www.NTSAD.org

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    Batten Disease Support and Research Association
    1175 Dublin Road.
    Columbus, OH 43215
    USA
    Tel: (866)648-8718
    Email: bdsra1@bdsra.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: jrider6022@aol.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: napvi@perkins.org
    Internet: http://www.napvi.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/

    National Pediatric Myoclonus Center
    P.O. Box 19643
    Springfield, IL 62794-9643
    USA
    Tel: (217)545-7635
    Fax: (217)545-1903
    Email: omsusa@siumed.edu
    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

    Lysosomal Diseases New Zealand
    16 Woodleigh Place
    Ohauiti
    Tauranga, 6008
    New Zealand
    Tel: 075448868
    Email: jenny.noble@xtra.co.nz
    Internet: http://www.ldnz.org.nz

    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: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Hide & Seek Foundation for Lysosomal Disease Research
    6475 East Pacific Coast Highway Suite 466
    Long Beach, CA 90803
    Tel: (877)621-1122
    Fax: (866)215-8850
    Email: info@hideandseek.org
    Internet: http://www.hideandseek.org

    NCL Resource
    c/o Sara E Mole PhD
    MRC Laboratory for Molecular Cell Biology
    University College London
    Gower Street
    London, WC1E 6BT
    United Kingdom
    Tel: 442076797257
    Email: ncl-www@ucl.ac.uk
    Internet: http://www.ucl.ac.uk/ncl

    Beyond Batten Disease Foundation
    P.O. Box 200998
    Austin, TX 78720
    Tel: (512)275-2600
    Fax: (512)835-4687
    Tel: (877)622-8836
    Email: info@beyondbatten.org
    Internet: http://www.beyondbatten.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 orphan@rarediseases.org

    Last Updated: 9/23/2007
    Copyright 1986, 1987, 1988, 1990, 1993, 1996, 1997, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article