National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Alpers syndrome

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My nephew has just been diagnosed with Alpers syndrome. The family is devastated. Is there a treatment or cure?

The following information may help to address your question:


What is Alpers syndrome?

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

How might Alpers syndrome be treated?

Treatment for Alpers syndrome is limited to managment of symptoms and supportive care. There is currently no cure. [2] [3]
A multi-disciplinary medical team of a gastroenterologist, neurologist, occupational, physical and/or speech therapist can assist with management of symptoms to maintain function as long as possible, insure comfort and promote the best possible quality-of-life. [2]
Last updated: 5/26/2011

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  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.
  3. Naviaux R K. Alpers syndrome. Orphanet. July 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=726. Accessed 1/20/2011.