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.
- Pelizaeus-Merzbacher disease
- sclerosis, diffuse familial brain
- sudanophilic leukodystrophy, Pelizaeus-Merzbacher type
- 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
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)
176 Nantwich Road
Crewe, CW2 6BG
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Australian Leukodystrophy Support Group, Inc.
54 Railway Road
Blackburn, VIC 3130
Pelizaeus Merzbacher Disease Support Group
43 Fir Tree Close
Bedfordshire, MK45 1NY
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
1307 White Horse Road
Voorhees, NJ 08043
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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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