{"Name":"Juvenile myoclonic epilepsy","DiseaseID__c":"GARD:0006808","id":6808,"encodedName":"juvenile-myoclonic-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Juvenile myoclonic epilepsy","Xref_IDs__c":"6204001; C0270853; C84796; D020190; DOID:4890; G40.B; MEDGEN:78738; MONDO:0009696; OMIM:254770; OMIMPS:254770; ORPHA:307","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009696","Disease_Description__c":"Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).","GARD_Name__c":"Juvenile myoclonic epilepsy","GARD_Synonym__c":"efhc1-related juvenile myoclonic epilepsy; ejm; epilepsy, myoclonic juvenile; janz syndrome; jme; jme - juvenile myoclonic epilepsy; juvenile myoclonus epilepsy; myoclonic epilepsy, juvenile; myoclonic epilepsy, juvenile, 1; petit mal, impulsive","Curated_Disease_Description_Source__c":"GARD:0006808","Curated_Disease_Description__c":"Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:307","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009696","ORPHANET_ID__c":"ORPHA:307","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica juvenil","Spanish_Description_Source__c":"ORPHA:307","Spanish_Description__c":"La epilepsia mioclónica juvenil es el síndrome de epilepsia generalizada idiopática hereditaria más común y se caracteriza por sacudidas mioclónicas de las extremidades superiores al despertar, crisis generalizadas tónico-clónicas que se manifiestan en la adolescencia y que se desencadenan por la privación del sueño, la ingesta de alcohol y actividades cognitivas, y crisis de ausencias típicas (30% de los casos).","Spanish_Disease_Name__c":"epilepsia mioclónica juvenil","Spanish_GARD_Synonym__c":"epilepsia juvenil con mioclono; jme","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.","Curated_Disease_Description_Source__c":"GARD:0006808","GARD_Synonym__c":"efhc1-related juvenile myoclonic epilepsy; ejm; epilepsy, myoclonic juvenile; janz syndrome; jme; jme - juvenile myoclonic epilepsy; juvenile myoclonus epilepsy; myoclonic epilepsy, juvenile; myoclonic epilepsy, juvenile, 1; petit mal, impulsive","Name":"Juvenile myoclonic epilepsy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CURE Epilepsy","Website__c":"https://www.cureepilepsy.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Fundación Liga Colombiana Contra la Epilepsia","Website__c":"http://epilepsiavalle.com/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:307"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:307"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270853"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006808","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84796","Source__c":"C0270853; MONDO:0009696","Xref__c":"C84796"},{"URL__c":"https://www.orpha.net/en/disease/detail/307","Source__c":"C0270853; MONDO:0009696; ORPHA:307","Xref__c":"ORPHA:307"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4890","Source__c":"MONDO:0009696","Xref__c":"DOID:4890"},{"URL__c":"https://www.omim.org/entry/254770","Source__c":"C0270853; MONDO:0009696; ORPHA:307","Xref__c":"OMIM:254770"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78738","Source__c":"C0270853","Xref__c":"MEDGEN:78738"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020190","Source__c":"C0270853; MONDO:0009696","Xref__c":"D020190"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS254770","Source__c":"MONDO:0009696","Xref__c":"OMIMPS:254770"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6204001","Source__c":"C0270853; MONDO:0009696","Xref__c":"6204001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270853","Source__c":"C0270853","Xref__c":"C0270853"},{"URL__c":"https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy","Source__c":"GARD:0006808","Xref__c":"https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009696","Source__c":"GARD:0006808","Xref__c":"MONDO:0009696"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G40.B","Source__c":"MONDO:0009696","Xref__c":"G40.B"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EFHC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/efhc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007207","HPO_Synonym__c":"Photically induced tonic-clonic seizure; Photosensitive tonic-clonic seizures; Seizures, tonic-clonic, photosensitive","HPO_Name__c":"Photosensitive tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007000","HPO_Name__c":"Morning myoclonic jerks","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000153","HPO_Synonym__c":"Abnormal mouth; Abnormality of the mouth","HPO_Name__c":"Abnormality of the mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of complexes of repetitive spikes and waves in EEG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002392","HPO_Synonym__c":"EEG: spike and multispike waves, 3-4 hz","HPO_Name__c":"EEG with polyspike wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002373","HPO_Synonym__c":"Febrile convulsion; Febrile seizures; Fever induced seizures; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever","HPO_Name__c":"Febrile seizure (within the age range of 3 months to 6 years)","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:307","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["efhc1-related juvenile myoclonic epilepsy"," ejm"," epilepsy, myoclonic juvenile"," janz syndrome"," jme"," jme - juvenile myoclonic epilepsy"," juvenile myoclonus epilepsy"," myoclonic epilepsy, juvenile"," myoclonic epilepsy, juvenile, 1"," petit mal, impulsive"],"spanishId":13435,"spanishName":"epilepsia-mioclonica-juvenil"}