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    Infantile Neuroaxonal Dystrophy

    Important
    It is possible that the main title of the report Infantile Neuroaxonal Dystrophy 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

    • INAD
    • Seitelberger Disease
    • neurodegeneration with brain iron accumulation 2A (NBIA2A)

    Disorder Subdivisions

    • prenatal/connatal neuroaxonal dystrophy
    • INAD, atypical

    General Discussion

    Infantile neuroaxonal dystrophy (INAD) is an extremely rare, inherited degenerative disorder of the nervous system characterized by abnormalities of nerve endings (axon terminals) within the brain and spinal cord (central nervous system) and outside the central nervous system (peripheral nerves and terminals). In most cases, infants and children with INAD appear to develop normally until approximately 14 to 18 months of age, when they may begin to experience progressively increased difficulties in walking. In other cases, symptoms may begin at approximately six to eight months of age, at which time infants may experience delays or an arrest in the acquisition of skills requiring the coordination of mental and physical activities (delayed psychomotor development).

    The symptoms and physical characteristics associated with infantile neuroaxonal dystrophy are the result of swelling and degeneration of individual nerve endings (dystrophic axonal swellings or "spheroids") within and outside the brain and spinal cord (central nervous system). In most cases, INAD is inherited as an autosomal recessive genetic trait.

    Resources

    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: office@ulf.org
    Internet: http://www.ulf.org/

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    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/

    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: 10/27/2011
    Copyright 1987, 1990, 1996, 1997, 1998, 2006, 2007, 2008, 2011 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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