{"Name":"Benign adult familial myoclonic epilepsy","DiseaseID__c":"GARD:0016758","id":16758,"encodedName":"benign-adult-familial-myoclonic-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Benign adult familial myoclonic epilepsy","Xref_IDs__c":"717225001; C4273988; MEDGEN:908684; MONDO:0019448; ORPHA:86814","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019448","Disease_Description__c":"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","GARD_Name__c":"Benign adult familial myoclonic epilepsy","GARD_Synonym__c":"adcme; autosomal dominant cortical myoclonus and epilepsy; bafme; bafme - benign adult familial myoclonic epilepsy; benign adult familial myoclonus epilepsy; fame; familial adult myoclonic epilepsy; familial cortical myoclonic tremor and epilepsy; fcmte","Curated_Disease_Description_Source__c":"MONDO:0019448","Curated_Disease_Description__c":"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:86814","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019448","ORPHANET_ID__c":"ORPHA:86814","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica familiar del adulto","Spanish_Description_Source__c":"ORPHA:86814","Spanish_Description__c":"La epilepsia mioclónica benigna adulta familiar (BAFME) es un síndrome epiléptico hereditario caracterizado por temblores corticales de las manos, tirones mioclónicos y ocasionalmente convulsiones generalizados o focales con un curso de la enfermedad no progresivo o de progresión muy lenta, y sin signos de una demencia temprana o una ataxia cerebelosa.","Spanish_Disease_Name__c":"epilepsia mioclónica familiar del adulto","Spanish_GARD_Synonym__c":"adcme; bafme; epilepsia mioclónica benigna familiar del adulto; fame; fcmte; mioclonía cortical y epilepsia autosómica dominante; temblor mioclónico cortical familiar y epilepsia","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":"Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.","Curated_Disease_Description_Source__c":"MONDO:0019448","GARD_Synonym__c":"adcme; autosomal dominant cortical myoclonus and epilepsy; bafme; bafme - benign adult familial myoclonic epilepsy; benign adult familial myoclonus epilepsy; fame; familial adult myoclonic epilepsy; familial cortical myoclonic tremor and epilepsy; fcmte","Name":"Benign adult familial myoclonic epilepsy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"All ages","Provided_By__c":"ORPHA:86814"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/86814","Source__c":"C4273988; MONDO:0019448; ORPHA:86814","Xref__c":"ORPHA:86814"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=908684","Source__c":"C4273988","Xref__c":"MEDGEN:908684"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717225001","Source__c":"C4273988; MONDO:0019448","Xref__c":"717225001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273988","Source__c":"C4273988","Xref__c":"C4273988"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019448","Source__c":"GARD:0016758","Xref__c":"MONDO:0019448"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SAMD12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"YEATS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ADRA2B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CTNND2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctnnd2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CNTN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MARCHF6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TNRC6A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAPGEF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100576","HPO_Name__c":"Amaurosis fugax","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Occasional (5-29%)","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:86814","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86814","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","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":["adcme"," autosomal dominant cortical myoclonus and epilepsy"," bafme"," bafme - benign adult familial myoclonic epilepsy"," benign adult familial myoclonus epilepsy"," fame"," familial adult myoclonic epilepsy"," familial cortical myoclonic tremor and epilepsy"," fcmte"]}