{"Name":"Paroxysmal dyskinesia","DiseaseID__c":"GARD:0018721","id":18721,"encodedName":"paroxysmal-dyskinesia","IsDeleted":false,"Disease_Name_Full__c":"Paroxysmal dyskinesia","Xref_IDs__c":"49949003; C0752210; HP:0007166; MEDGEN:156242; MONDO:0015427; ORPHA:1431","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015427","Disease_Description__c":"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).","GARD_Name__c":"Paroxysmal dyskinesia","GARD_Synonym__c":"involuntary dystonic or choreiform movements; paroxysmal choreoathetosis; paroxysmal dystonic choreoathetosis","Curated_Disease_Description_Source__c":"MONDO:0015427","Curated_Disease_Description__c":"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1431","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015427","ORPHANET_ID__c":"ORPHA:1431","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discinesia paroxística","Spanish_Description_Source__c":"ORPHA:1431","Spanish_Description__c":"La discinesia paroxística (PD) es un grupo heterogéneo de trastornos del movimiento poco frecuentes que se manifiestan con movimientos involuntarios anormales que se repiten episódicamente y duran sólo un tiempo breve. La PD incluye la discinesia paroxística cinesigénica (PKD), la discinesia paroxística no cinesigénica (PNKD), la discinesia paroxística inducida por esfuerzo (PED) y una forma variante de la PKD, las convulsiones infantiles y coreoatetosis (síndrome ICCA) (consulte estos términos).","Spanish_Disease_Name__c":"discinesia paroxística","Spanish_GARD_Synonym__c":"coreoatetosis paroxística; coreoatetosis paroxística distónica","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":"Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).","Curated_Disease_Description_Source__c":"MONDO:0015427","GARD_Synonym__c":"involuntary dystonic or choreiform movements; paroxysmal choreoathetosis; paroxysmal dystonic choreoathetosis","Name":"Paroxysmal dyskinesia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1431"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=156242","Source__c":"C0752210","Xref__c":"MEDGEN:156242"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49949003","Source__c":"MONDO:0015427","Xref__c":"49949003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0752210","Source__c":"C0752210","Xref__c":"C0752210"},{"URL__c":"https://www.orpha.net/en/disease/detail/1431","Source__c":"C0752210; MONDO:0015427; ORPHA:1431","Xref__c":"ORPHA:1431"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007166","Source__c":"C0752210","Xref__c":"HP:0007166"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015427","Source__c":"GARD:0018721","Xref__c":"MONDO:0015427"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/paroxysmal-choreoathetosis"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Dystonia"]},"synonyms":["involuntary dystonic or choreiform movements"," paroxysmal choreoathetosis"," paroxysmal dystonic choreoathetosis"]}