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 |
| 0001251 | ||
| Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
| Choreoathetosis | 0001266 | |
| Coma | 0001259 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
| Global |
0001263 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Myoclonus | 0001336 | |
| Progressive |
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 visual evoked potentials | 0000649 | |
| Astrocytosis | 0002446 | |
| 0000007 | ||
| Bile duct proliferation | 0001408 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral cortical neurodegeneration | 0006964 | |
| Cerebral visual impairment | 0100704 | |
|
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 |
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 |
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 |
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My nephew has just been diagnosed with Alpers syndrome. The family is devastated. Is there a treatment or cure? See answer
