Pelizaeus Merzbacher disease

National Organization for Rare Disorders, Inc.

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.


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

Disorder Subdivisions

  • None

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.


CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

United Leukodystrophy Foundation
224 N. 2nd St.
Suite 2
DeKalb, IL 60115
Tel: (815)748-3211
Tel: (800)728-5483

ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
Tel: 33383309334
Fax: 33383300068

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

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

Australian Leukodystrophy Support Group, Inc.
Nerve Centre
54 Railway Road
Blackburn, VIC 3130
Tel: 61395847070
Tel: 1800141400

Pelizaeus Merzbacher Disease Support Group
43 Fir Tree Close
Bedfordshire, MK45 1NY
United Kingdom
Tel: 01525716907

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

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766

PMD Foundation
1307 White Horse Road
Suite 603
Voorhees, NJ 08043
Tel: (609)443-9623
Email: or

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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

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Last Updated:  4/8/2010
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