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    Pelizaeus Merzbacher disease

    Important
    It is possible that the main title of the report Pelizaeus Merzbacher 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

    • PMD
    • Pelizaeus-Merzbacher disease
    • sclerosis, diffuse familial brain
    • sudanophilic leukodystrophy, Pelizaeus-Merzbacher type

    Disorder Subdivisions

    • classical x-linked Pelizaeus-Merzbacher brain sclerosis
    • acute infantile Pelizaeus-Merzbacher brain sclerosis
    • autosomal dominant Pelizaeus-Merzbacher brain sclerosis
    • late onset Pelizaeus-Merzbacher brain sclerosis

    General Discussion

    Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. Symptoms develop due to lack of the fatty covering (myelin sheath) of nerve cell fibers. Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, brain stem and spinal cord. Signs may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, and late onset loss of motor abilities and progressive deterioration of intellectual function. The neurologic signs of Pelizaeus-Merzbacher disease are usually slowly progressive.

    Pelizaeus-Merzbacher disease is associated with abnormalities (mutations) in the PLP1 gene. Several forms of the disorder have been identified including classic PMD; connatal PMD; transitional PMD; and PLP1 null syndrome. Forms of complicated spastic paraparesis and pure spastic paraparesis (designated SPG2) are also caused by the PLP1 gene.

    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

    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/

    ELA - European Association Against Leukodystrophies
    2, rue Mi-les-Vignes
    54521
    Laxou Cedex, 61024
    France
    Tel: 33383309334
    Fax: 33383300068
    Email: ela@ela-asso.com
    Internet: http://www.ela-asso.com

    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/

    Hunter's Hope Foundation, Inc.
    PO Box 643
    6368 West Quaker Street
    Orchard Park, NY 14127
    Tel: (716)667-1200
    Fax: (716)667-1212
    Tel: (877)984-4673
    Email: info@huntershope.org
    Internet: http://www.huntershope.org

    Australian Leukodystrophy Support Group, Inc.
    Nerve Centre
    54 Railway Road
    Blackburn, VIC 3130
    Australia
    Tel: 61395847070
    Tel: 1800141400
    Email: mail@alds.org.au
    Internet: http://www.alds.org.au

    Pelizaeus Merzbacher Disease Support Group
    43 Fir Tree Close
    Flitwick
    Bedfordshire, MK45 1NY
    United Kingdom
    Tel: 01525716907
    Email: pmdsupport@dsl.pipex.com
    Internet: http://www.patient.co.uk/showdoc.asp?doc=26739559

    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

    PMD Foundation
    1307 White Horse Road
    Suite 603
    Voorhees, NJ 08043
    Tel: (609)443-9623
    Email: dhobson@pmdfoundation.org or jeffleonard@pmdfoundation.org
    Internet: http://www.pmdfoundation.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: 4/8/2010
    Copyright 1986, 1987, 1990, 1994, 2001, 2010 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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