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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alpers syndrome


Other Names for this Disease

  • Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
  • Alpers disease
  • Alpers progressive infantile poliodystrophy
  • Alpers-Huttenlocher syndrome
  • Diffuse cerebral degeneration in infancy
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Overview

Alpers syndrome is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia). [1]  Most often Alpers syndrome is caused by mutations in the POLG gene. [2]
Last updated: 1/24/2011

References

  1. NORD. Alpers Disease. NORD: National Organization for Rare Disease. 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpers%20Disease. Accessed 1/20/2011.
  2. Cohen B, Chinnery P, Copeland W. POLG-Related Disorders. GeneReviews. March 16, 2010; http://www.ncbi.nlm.nih.gov/books/NBK26471/. Accessed 1/20/2011.
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Basic Information

In Depth Information

  • 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 Alpers syndrome. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
  • Alpers disease
  • Alpers progressive infantile poliodystrophy
  • Alpers-Huttenlocher syndrome
  • Diffuse cerebral degeneration in infancy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.