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Alper's Syndrome

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]

How might Alper's syndrome be treated?

Treatment for Alpers yndrome 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]

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]

References

  • NORD. Alpers Disease. NORD: National Organization for Rare Disease. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpers%20Disease. Accessed January 20, 2011.
  • Cohen B, Chinnery P, Copeland W. POLG-Related Disorders. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK26471/. Accessed January 20, 2011.
  • Naviaux R K. Alpers syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=726. Accessed January 20, 2011.



PLEASE NOTE: This is by no means complete or authoritative and is provided only as a convenience to readers. The resources on this site should never be used as a substitute for professional medical care or advice. Information herein must not be used in any decision-making process regarding the wellness and/or health of your child. You must consult the appropriate professional regarding any such issues.

Narrative on several of these pages is presented as provided to the public domain by the National Institute of Neurological Disorders and Stroke and the National Institute of Health. For additional and more detailed information visit the NINDS Website.

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