{"Name":"Myoclonus, familial","DiseaseID__c":"GARD:0017444","id":17444,"encodedName":"myoclonus-familial","IsDeleted":false,"Disease_Name_Full__c":"Myoclonus, familial","Xref_IDs__c":"763770005; CN263131; MEDGEN:946159; MONDO:0013981; OMIMPS:614937; ORPHA:319189","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013981","Disease_Description__c":"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.","GARD_Name__c":"Myoclonus, familial","GARD_Synonym__c":"familial cortical myoclonus; familial myoclonus; myoclonus, familial cortical","Curated_Disease_Description_Source__c":"MONDO:0013981","Curated_Disease_Description__c":"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:319189","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013981","ORPHANET_ID__c":"ORPHA:319189","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mioclonía cortical familiar","Spanish_Description_Source__c":"ORPHA:319189","Spanish_Description__c":"El mioclono cortical familiar es un trastorno genético del movimiento poco frecuente caracterizado por un mioclonus cortical autosómico dominante, multifocal y lentamente progresivo de inicio en el adulto. Los afectados presentan breves movimientos espasmódicos involuntarios somatosensorialmente evocados en la cara, brazos y piernas, asociados en la mayoría de los casos con caídas sostenidas, múltiples y repentinas sin pérdida de conciencia. Las convulsiones u otros déficits neurológicos están ausentes, al margen de la leve ataxia cerebelosa al final del curso de la enfermedad.","Spanish_Disease_Name__c":"mioclonía cortical familiar","Spanish_GARD_Synonym__c":null,"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":"Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.","Curated_Disease_Description_Source__c":"MONDO:0013981","GARD_Synonym__c":"familial cortical myoclonus; familial myoclonus; myoclonus, familial cortical","Name":"Myoclonus, familial","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:319189"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS614937","Source__c":"MONDO:0013981","Xref__c":"OMIMPS:614937"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763770005","Source__c":"MONDO:0013981","Xref__c":"763770005"},{"URL__c":"https://www.orpha.net/en/disease/detail/319189","Source__c":"CN263131; MONDO:0013981","Xref__c":"ORPHA:319189"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN263131","Source__c":"CN263131","Xref__c":"CN263131"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013981","Source__c":"GARD:0017444","Xref__c":"MONDO:0013981"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=946159","Source__c":"CN263131","Xref__c":"MEDGEN:946159"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NOL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"]},"synonyms":["familial cortical myoclonus"," familial myoclonus"," myoclonus, familial cortical"]}