{"Name":"Cryptogenic late-onset epileptic spasms","DiseaseID__c":"GARD:0020050","id":20050,"encodedName":"cryptogenic-late-onset-epileptic-spasms","IsDeleted":false,"Disease_Name_Full__c":"Cryptogenic late-onset epileptic spasms","Xref_IDs__c":"778063003; C4755310; MEDGEN:1666207; MONDO:0015585; ORPHA:163708","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015585","Disease_Description__c":"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.","GARD_Name__c":"Cryptogenic late-onset epileptic spasms","GARD_Synonym__c":"late-onset infantile spasms","Curated_Disease_Description_Source__c":"MONDO:0015585","Curated_Disease_Description__c":"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:163708","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015585","ORPHANET_ID__c":"ORPHA:163708","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Espasmos epilépticos criptogénicos de inicio tardío","Spanish_Description_Source__c":"ORPHA:163708","Spanish_Description__c":"Los espasmos epilépticos criptogénicos de inicio tardío, son un síndrome epiléptico poco frecuente, caracterizado por espasmos epilépticos de inicio tardío (después del primer año de vida) que se presentan de forma agrupada, asociados a crisis tónicas, ausencias atípicas y deterioro cognitivo. Con frecuencia, también están presentes dificultades del lenguaje y problemas conductuales. El EEG se caracteriza por una onda lenta, temporal o temporofrontal, o punta focal combinada con puntas-ondas sincrónicas y sin hipsarritmia o alteración de la actividad de fondo.","Spanish_Disease_Name__c":"espasmos epilépticos criptogénicos de inicio tardío","Spanish_GARD_Synonym__c":"espasmos infantiles de inicio tardío; espasmos infantiles tardíos","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":"Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.","Curated_Disease_Description_Source__c":"MONDO:0015585","GARD_Synonym__c":"late-onset infantile spasms","Name":"Cryptogenic late-onset epileptic spasms","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"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":"Childhood","Provided_By__c":"ORPHA:163708"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755310","Source__c":"C4755310","Xref__c":"C4755310"},{"URL__c":"https://www.orpha.net/en/disease/detail/163708","Source__c":"C4755310; MONDO:0015585; ORPHA:163708","Xref__c":"ORPHA:163708"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666207","Source__c":"C4755310","Xref__c":"MEDGEN:1666207"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778063003","Source__c":"C4755310","Xref__c":"778063003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015585","Source__c":"GARD:0020050","Xref__c":"MONDO:0015585"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["late-onset infantile spasms"]}