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    Neuroacanthocytosis

    Important
    It is possible that the main title of the report Neuroacanthocytosis 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

    • Levine-Critchley syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. The onset, severity and specific physical findings vary depending upon the specific type of neuroacanthocytosis present. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). These disorders are inherited although the mode of transmission can vary. There is disagreement in the medical literature about what disorders should be classified as forms of neuroacanthocytosis. Four distinct disorders are usually classified as the "core" neuroacanthocytosis syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). Some medical sources also include abetalipoproteinemia and hypobetalipoproteinemia types I and II as forms of neuroacanthocytosis. This report concentrates only on the four "core" disorders of neuroacanthocytosis. NORD has a separate report on abetalipoproteinemia.

    Resources

    Contact A Family
    209-211 City Road
    London, EC1V 1JN
    United Kingdom
    Tel: 02076088700
    Fax: 02076088701
    Tel: 08088083555
    Email: info@cafamily.org.uk
    Internet: http://www.cafamily.org.uk/

    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/

    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/

    Advocacy for Neuroacanthocytosis Patients
    32 Launceston Place
    London, W8 5RN
    United Kingdom
    Tel: 4402079372938
    Email: ginger@naadvocacy.org
    Internet: http://www.naadvocacy.org

    Movement Disorder Society
    555 E. Wells Street
    Suite 1100
    Milwaukee, WI 53202-3823
    Tel: (414)276-2145
    Fax: (414)276-3349
    Email: info@movementdisorders.org
    Internet: http://www.movementdisorders.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: 3/20/2014
    Copyright 1993, 1999, 2007, 2011, 2014 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.

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