Pelizaeus Merzbacher Brain Sclerosis

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Pelizaeus Merzbacher Brain Sclerosis 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.


  • Pelizaeus-Merzbacher Disease
  • PMD
  • 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 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.


CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327

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

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: (815)895-3211
Fax: (815)895-2432
Tel: (800)728-5483

ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
Tel: 33 383 30 93 34
Fax: 33 383 30 00 68

National Institute of Neurological Disorders and Stroke (NINDS)
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
3859 N. Buffalo Street
Orchard Park, NY 14127
Tel: (716)667-1200
Fax: (716)667-1212
Tel: (877)984-4673

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

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

For a Complete Report

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

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