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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]
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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Alpers syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Alpers syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alpers syndrome. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.