Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pelizaeus Merzbacher Brain Sclerosis


Synonyms of Pelizaeus Merzbacher Brain Sclerosis
  • Pelizaeus-Merzbacher Disease
  • PMD
  • Sclerosis, Diffuse Familial Brain
  • Sudanophilic Leukodystrophy, Pelizaeus-Merzbacher Type

Disorder Subdivisions

  • Acute Infantile Pelizaeus-Merzbacher Brain Sclerosis
  • Autosomal Dominant Pelizaeus-Merzbacher Brain Sclerosis
  • Classical X-Linked Pelizaeus-Merzbacher Brain Sclerosis
  • Late Onset Pelizaeus-Merzbacher Brain Sclerosis


General Discussion
Pelizaeus-Merzbacher brain sclerosis is a rare inherited disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain. Symptoms develop due to lack of the fatty covering of nerve cells (myelin sheath). Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, and/or brain stem. Symptoms 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, loss of motor abilities, and the progressive deterioration of intellectual function. The symptoms of Pelizaeus-Merzbacher brain sclerosis are usually slowly progressive.

Several forms of the disorder have been identified, including classical X-linked Pelizaeus-Merzbacher brain sclerosis; acute infantile (or connatal) Pelizaeus-Merzbacher brain sclerosis; and autosomal dominant, adult-onset (or late-onset) Pelizaeus-Merzbacher brain sclerosis.
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Organizations related to Pelizaeus Merzbacher Brain Sclerosis
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • ELA - European Association against Leukodystrophies
    2, rue Mi-les-Vignes
    Laxou None 54520
    Phone #: 33 -383- 30 93 34
    800 #: --
    e-mail: ela@ela-asso.com
    Home page: http://www.ela-asso.com
  • Hunter's Hope Foundation, Inc.
    PO Box 643
    Orchard Park NY 14127
    Phone #: 716-667-1200
    800 #: 877-984-4673
    e-mail: info@huntershope.org
    Home page: http://www.huntershope.org
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: braininfo@ninds.nih.gov
    Home page: http://www.ninds.nih.gov/
  • Pelizaeus Merzbacher Disease Support Group
    43 Fir Tree Close
    Flitwick,Bedfordshire None MK45 1NY
    Phone #: N/A
    800 #: N/A
    e-mail: pmdsupport@dsl.pipex.com
    Home page: http://www.patient.co.uk/showdoc.asp?doc=26739559
  • United Leukodystrophy Foundation
    2304 Highland Drive
    Sycamore IL 60178
    Phone #: 815-895-3211
    800 #: 800-728-5483
    e-mail: office@ulf.org
    Home page: http://www.ulf.org/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html