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Genetic and Rare Diseases Information Center (GARD)

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Pelizaeus-Merzbacher disease


Other Names for this Disease

  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus Merzbacher disease
  • PMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern.[1] The condition primarily affects males.[1][2]
Last updated: 7/20/2009

References

  1. Pelizaeus-Merzbacher disease. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=pelizaeusmerzbacherdisease. Accessed 7/20/2009.
  2. NINDS Pelizaeus-Merzbacher Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm. Accessed 7/20/2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Pelizaeus-Merzbacher disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The Cleveland Clinic Web site has an information page on Pelizaerus-Merzbacher disease. Click on Cleveland Clinic to view this information page.
  • Genetics Home Reference (GHR) contains information on Pelizaeus-Merzbacher disease. This website is maintained by the National Library of Medicine.
  • Medline provides a list of resources on leukodystrophies. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Wayne State University Web site has an information page on Pelizaeus-Merzbacher disease. Click on Wayne State University to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pelizaeus-Merzbacher disease. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus Merzbacher disease
  • PMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.