{"Name":"Progressive myoclonic epilepsy","DiseaseID__c":"GARD:0007140","id":7140,"encodedName":"progressive-myoclonic-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Progressive myoclonic epilepsy","Xref_IDs__c":"267581004; C0751778; C7636; D020191; DOID:891; MEDGEN:199732; MONDO:0020074; OMIM:310370; OMIMPS:254800; ORPHA:98261","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":4,"Description_Source__c":"MONDO:0020074","Disease_Description__c":"A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.","GARD_Name__c":"Progressive myoclonic epilepsy","GARD_Synonym__c":"epilepsy, progressive myoclonic; familial progressive myoclonic epilepsy; myoclonic epilepsies, progressive; myoclonus epilepsy; pme; progressive myoclonic epilepsy (disorder) [ambiguous]; progressive myoclonus epilepsy","Curated_Disease_Description_Source__c":"GARD:0007140","Curated_Disease_Description__c":"Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time. Many of these PME diseases begin in childhood or adolescence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98261","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020074","ORPHANET_ID__c":"ORPHA:98261","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica progresiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epilepsia mioclónica progresiva","Spanish_GARD_Synonym__c":"pme","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":"Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time. Many of these PME diseases begin in childhood or adolescence.","Curated_Disease_Description_Source__c":"GARD:0007140","GARD_Synonym__c":"epilepsy, progressive myoclonic; familial progressive myoclonic epilepsy; myoclonic epilepsies, progressive; myoclonus epilepsy; pme; progressive myoclonic epilepsy (disorder) [ambiguous]; progressive myoclonus epilepsy","Name":"Progressive myoclonic epilepsy","estimateUsa":""}],"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":"Adolescent","Provided_By__c":"ORPHA:98261"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98261"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98261"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98261"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0751778"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751778","Source__c":"C0751778","Xref__c":"C0751778"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=267581004","Source__c":"C0751778; MONDO:0020074","Xref__c":"267581004"},{"URL__c":"https://www.orpha.net/en/disease/detail/98261","Source__c":"C0751778; MONDO:0020074; ORPHA:98261","Xref__c":"ORPHA:98261"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS254800","Source__c":"MONDO:0020074","Xref__c":"OMIMPS:254800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7636","Source__c":"C0751778; MONDO:0020074","Xref__c":"C7636"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=199732","Source__c":"C0751778","Xref__c":"MEDGEN:199732"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020191","Source__c":"C0751778; MONDO:0020074","Xref__c":"D020191"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A891","Source__c":"MONDO:0020074","Xref__c":"DOID:891"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020074","Source__c":"GARD:0007140","Xref__c":"MONDO:0020074"},{"URL__c":"https://www.omim.org/entry/310370","Source__c":"C0751778","Xref__c":"OMIM:310370"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, progressive myoclonic"," familial progressive myoclonic epilepsy"," myoclonic epilepsies, progressive"," myoclonus epilepsy"," pme"," progressive myoclonic epilepsy (disorder) [ambiguous]"," progressive myoclonus epilepsy"]}