Rare Pulmonology News
Disease Profile
Epilepsy with myoclonic-atonic seizures
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.
Unknown
Age of onset
Childhood
ICD-10
G40.4
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Myoclonic astatic epilepsy; Doose syndrome; Epilepsy with myoclonic-astatic seizures;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Treatment may include valproic acid alone or with other antiepileptic drugs. Ketogenic (high fat, low carb) diet has been successful in some. Long term outlook ranges from persistent seizures that do not respond to treatment and
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| 0001251 | ||
| Atonic |
0010819 | |
| 0010849 | ||
| Generalized myoclonic seizure | 0002123 | |
| Generalized myoclonic-atonic seizure | 0011170 | |
| 30%-79% of people have these symptoms | ||
| Abnormal brain FDG positron emission tomography | 0012658 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
|
Difficulty articulating speech
|
0001260 | |
| EEG with abnormally slow frequencies | 0011203 | |
| Epileptic |
0200134 | |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| 5%-29% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| Autistic behavior | 0000729 | |
| Febrile seizure (within the age range of 3 months to 6 years) |
Fever induced seizures
|
0002373 |
| Generalized non-motor (absence) seizure |
Brief seizures with staring spells
|
0002121 |
| Global |
0001263 | |
| Impulsivity |
Impulsive
|
0100710 |
| Myoclonus | 0001336 | |
| Photosensitive tonic-clonic seizure | 0007207 | |
| 0002650 | ||
| Tremor | 0001337 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Eyelid myoclonus | 0025097 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
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.
Related diseases
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 include Lennox-Gastaut syndrome, Dravet syndrome, Benign Myoclonic Epilepsy of Infancy (see these terms) and structural brain lesions.
Visit the Orphanet disease page for more information.
|
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 Supporting this Disease
-
Doose Syndrome Epilepsy Alliance
PO Box 15224
Colorado Springs, CO 80935-5224
Toll-free: (855) DOOSE-NOW
Telephone: (855) 366-7366
E-mail: [email protected]
Website: https://www.doosesyndrome.org/ -
SLC6A1 Connect
2426 South Clayton Street
Denver, CO 80210
E-mail: [email protected]
Website: https://SLC6A1Connect.org
Social Networking Websites
- SLC6A1 Gene Families is a closed Facebook group for people with a loved one with a SLC6A1 gene change or mutation.
Organizations Providing General Support
-
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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
- Doose Syndrome Alliance provides detailed information on myoclonic astatic epilepsy. Click on the link to view this information.
- Epilepsy Action provides information on the symptoms and treatment of myoclonic astatic epilepsy. Click on the link to view this information.
- Johns Hopkins Epilepsy Center provides information on myoclonic astatic epilepsy. Click on the link to view this information.
In-Depth Information
- 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 Epilepsy with myoclonic-atonic seizures. Click on the link to view a sample search on this topic.
References
- Myoclonic-astastic epilepsy. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1942. Accessed 7/25/2018.
- Carvill GL, McMahon JM, Schneider A et al.,. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genetics. 2015 May 7; 96(5):808-815. Accessed 7/25/2018.