{"Name":"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","DiseaseID__c":"GARD:0017003","id":17003,"encodedName":"rolandic-epilepsy-paroxysmal-exercise-induced-dystonia-writers-cramp-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","Xref_IDs__c":"C1842531; C535499; DOID:0111645; MEDGEN:334104; MONDO:0011970; OMIM:608105; ORPHA:163727","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:163727","Disease_Description__c":"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.","GARD_Name__c":"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","GARD_Synonym__c":"epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp; re-ped-wc; rolandic epilepsy exercise-induced dystonia; rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome","Curated_Disease_Description_Source__c":"ORPHA:163727","Curated_Disease_Description__c":"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:163727","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011970","ORPHANET_ID__c":"ORPHA:163727","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de epilepsia rolándica-distonía paroxística inducida por ejercicio-calambre del escritor","Spanish_Description_Source__c":"ORPHA:163727","Spanish_Description__c":"Es un síndrome epiléptico de origen genético y poco frecuente que se caracteriza por la aparición en la lactancia o en la infancia de crisis motoras focales que remiten con la edad, así como por la aparición en la infancia de distonía inducida por el ejercicio, que a menudo persiste en la edad adulta. Otras características descritas son nistagmo y temblor postural de las manos.","Spanish_Disease_Name__c":"síndrome de epilepsia rolándica-distonía paroxística inducida por ejercicio-calambre del escritor","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":"A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.","Curated_Disease_Description_Source__c":"ORPHA:163727","GARD_Synonym__c":"epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp; re-ped-wc; rolandic epilepsy exercise-induced dystonia; rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome","Name":"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","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"},{"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":"Infancy","Provided_By__c":"ORPHA:163727"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/163727","Source__c":"C1842531; MONDO:0011970; ORPHA:163727","Xref__c":"ORPHA:163727"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842531","Source__c":"C1842531","Xref__c":"C1842531"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535499","Source__c":"MONDO:0011970","Xref__c":"C535499"},{"URL__c":"https://www.omim.org/entry/608105","Source__c":"C1842531; MONDO:0011970; ORPHA:163727","Xref__c":"OMIM:608105"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334104","Source__c":"C1842531","Xref__c":"MEDGEN:334104"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111645","Source__c":"MONDO:0011970","Xref__c":"DOID:0111645"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1231737000","Source__c":"C1842531","Xref__c":"1231737000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011970","Source__c":"GARD:0017003","Xref__c":"MONDO:0011970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK274566","Source__c":"Gene Review","Xref__c":"NBK274566"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBC1D24","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbc1d24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal seizure characterized at onset by clonic movements affecting half of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007332","HPO_Synonym__c":"Hemifacial seizures","HPO_Name__c":"Focal hemifacial clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011295","HPO_Name__c":"EEG with parietal sharp waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002356","HPO_Synonym__c":"Writer's cramp","HPO_Name__c":"Writer's cramp","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012012","HPO_Name__c":"EEG with parietal focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002268","HPO_Synonym__c":"Episodic dystonia","HPO_Name__c":"Paroxysmal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007104","HPO_Name__c":"Prolonged somatosensory evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp"," re-ped-wc"," rolandic epilepsy exercise-induced dystonia"," rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome"]}