Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy;
Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
Absent tendon reflexes
Grand mal seizures
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
Seizure affecting one half of brain
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
Low or weak muscle tone
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of mitochondrial metabolism||0003287|
|Abnormality of visual evoked potentials||0000649|
|Bile duct proliferation||0001408|
Degeneration of cerebellum
|Cerebral cortical neurodegeneration||0006964|
|Cerebral visual impairment||0100704|
[ more ]
|Elevated hepatic transaminase||
High liver enzymes
|Epilepsia partialis continua||0012847|
|Failure to thrive||
[ more ]
Decreased muscle tone
Low muscle tone
[ more ]
|Increased serum lactate||0002151|
Onset in first year of life
Onset in infancy
[ more ]
|Microvesicular hepatic steatosis||0001414|
|Neuronal loss in
Loss of brain cells
Inability to move
Repeated seizures without recovery between them
Loss of vision
[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
A multi-disciplinary medical team of a
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses are numerous with some examples being disease phenocopies caused by mutations in the C10ORF2 gene (10q24), which can cause autosomal dominant progressive external ophthalmoplegia (adPEO) as well as recessive mutations that can lead to other phenotypes that may overlap with AHS. Others disorders include infantile neuronal ceroid-lipofuscinosis, late-infantile neuronal ceroid lipofuscinosis, MERRF and MELAS. Other POLG-related disorders include recessive mitochondrial ataxia syndrome (MIRAS), ataxia neuropathy spectrum (ANS), and autosomal recessive PEO.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Alpers syndrome. This website is maintained by the National Library of Medicine.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- NORD. Alpers Disease. NORD: National Organization for Rare Disease. 2007; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpers%20Disease. Accessed 1/20/2011.
- Cohen B, Chinnery P, Copeland W. POLG-Related Disorders. GeneReviews. March 16, 2010; https://www.ncbi.nlm.nih.gov/books/NBK26471/. Accessed 1/20/2011.
- Naviaux R K. Alpers syndrome. Orphanet. July 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=726. Accessed 1/20/2011.