Rare Pulmonology News

Disease Profile

Alpers syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

G31.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;

Summary

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]

Symptoms

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
Learn More:
HPO ID
30%-79% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Ataxia
0001251
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Choreoathetosis
0001266
Coma
0001259
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Focal-onset seizure
Seizure affecting one half of brain
0007359
Global developmental delay
0001263
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Myoclonus
0001336
Progressive spasticity
0002191
Spastic paraparesis
0002313
5%-29% of people have these symptoms
Blindness
0000618
Percent of people who have these symptoms is not available through HPO
3-Methylglutaconic aciduria
0003535
Abnormality of mitochondrial metabolism
0003287
Abnormality of visual evoked potentials
0000649
Astrocytosis
0002446
Autosomal recessive inheritance
0000007
Bile duct proliferation
0001408
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral cortical neurodegeneration
0006964
Cerebral visual impairment
0100704
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Elevated hepatic transaminase
High liver enzymes
0002910
Epilepsia partialis continua
0012847
Ethylmalonic aciduria
0003219
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Gliosis
0002171
Hepatic failure
Liver failure
0001399
Hepatomegaly
Enlarged liver
0002240
Hypertonia
0001276
Increased CSF protein
0002922
Increased serum lactate
0002151
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Micronodular cirrhosis
0001413
Microvesicular hepatic steatosis
0001414
Neuronal loss in central nervous system
Loss of brain cells
0002529
Paralysis
Inability to move
0003470
Rapidly progressive
Worsening quickly
0003678
Status epilepticus
Repeated seizures without recovery between them
0002133
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Vomiting
Throwing up
0002013

Diagnosis

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.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    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]

    Organizations

    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.

    Organizations Providing General Support

      Learn more

      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.

      Where to Start

        In-Depth Information

        • 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.

          References

          1. 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.
          2. 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.
          3. 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.

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