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
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.
Australian Leukodystrophy Support Group, Inc.
- P O Box 2550
- Mount Waverley, VIC 3149
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CLIMB (Children Living with Inherited Metabolic Diseases)
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ELA - European Association Against Leukodystrophies
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- Laxou Cedex, 61024
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Genetic and Rare Diseases (GARD) Information Center
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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
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- Website: http://www.huntershope.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
NIH/National Institute of Neurological Disorders and Stroke
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- 1307 White Horse Road
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- Voorhees, NJ 8043
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- Website: http://www.pmdfoundation.org
Pelizaeus Merzbacher Disease Support Group
- 43 Fir Tree Close
- Bedfordshire, MK45 1NY
- United Kingdom
- Tel: 1525716907
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- Website: http://www.patient.co.uk/showdoc.asp?doc=26739559
United Leukodystrophy Foundation
- 224 N. 2nd St.
- Suite 2
- DeKalb, IL 60115
- Tel: (815)748-3211
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- Website: http://www.ulf.org/
For a Complete Report
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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: 1/22/1970
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