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
- Tel: 0418-755-994
- Tel: 1-800-141-400
- Email: firstname.lastname@example.org
- Website: http://www.alds.org.au
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: email@example.com
- Website: http://www.CLIMB.org.uk
ELA - European Association Against Leukodystrophies
- 2, rue Mi-les-Vignes
- Laxou Cedex, 61024
- Tel: 33383309334
- Fax: 33383300068
- Email: firstname.lastname@example.org
- Website: http://www.ela-asso.com
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
- Website: http://rarediseases.info.nih.gov/GARD/
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
- Email: email@example.com
- 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
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
- 1307 White Horse Road
- Suite 603
- Voorhees, NJ 8043
- Tel: (609)443-9623
- Email: firstname.lastname@example.org or email@example.com
- Website: http://www.pmdfoundation.org
Pelizaeus Merzbacher Disease Support Group
- 43 Fir Tree Close
- Bedfordshire, MK45 1NY
- United Kingdom
- Tel: 1525716907
- Email: firstname.lastname@example.org
- 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
- Tel: (800)728-5483
- Email: email@example.com
- Website: http://www.ulf.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/22/1970
Copyright 2010 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.