{"orpha":163727,"name":"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rolandic epilepsy exercise-induced dystonia"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163727/","orphanet_url":"https://www.orpha.net/en/disease/detail/163727","names":{"fr":{"name":"Syndrome d'épilepsie rolandique-dystonie paroxystique induite par l'effort-crampe de l'écrivain","definition":"Syndrome épileptique rare de cause génétique, caractérisé par l'apparition, pendant la petite enfance ou l'enfance, de crises focales motrices qui deviennent rémittentes avec l'âge, ainsi que par une dystonie induite par l'effort apparaissant pendant l'enfance et persistant à l'âge adulte. Les autres signes rapportés comprennent un nystagmus et des tremblements posturaux des mains."},"de":{"name":"Rolando-Epilepsie-paroxysmale anstrengungsinduzierte Dyskinesie-Schreibkrampf-Syndrom","definition":"Ein seltenes genetisch bedingtes Epilepsiesyndrom, das durch fokale motorische Anfälle im Kindesalter oder in der Kindheit gekennzeichnet ist, die mit zunehmendem Alter remittieren, sowie durch eine in der Kindheit auftretende, durch Bewegung ausgelöste Dystonie, die oft bis ins Erwachsenenalter andauert. Darüber hinaus wird über Nystagmus und Haltetremor der Hände berichtet."},"es":{"name":"Síndrome de epilepsia rolándica-distonía paroxística inducida por ejercicio-calambre del escritor","definition":"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."},"it":{"name":"Sindrome epilessia rolandica-distonia parossistica indotta dall'esercizio-crampo dello scrittore","definition":"Si tratta di un'epilessia genetica rara, caratterizzata da convulsioni motorie focali, che esordiscono nella prima infanzia o nell'infanzia e si attenuano con l'età, e distonia ad esordio infantile indotta dall'esercizio fisico, che spesso persiste anche nell'età adulta. I pazienti possono presentare anche nistagmo e tremore posturale delle mani."},"nl":{"name":"Rolandische epilepsie - paroxysmale inspanningsgeïnduceerde dystonie - schrijfkramp-syndroom","definition":"Een zeldzaam, genetisch epilepsiesyndroom, gekenmerkt door infantiel of in de kindertijd optredende focale motorische insulten die verminderen met het ouder worden, alsook aanvang in de kindertijd van inspanningsgeïnduceerde dystonie die vaak aanhoudt tot in de volwassenheid. Bijkomend gerapporteerde kenmerken zijn onder meer nystagmus en posturale tremor van de handen."},"pt":{"name":"Síndrome de epilepsia rolândica-distonia induzida por exercício paroxismal-cãibra do escritor"},"pl":{"name":"Padaczka rolandyczna - napadowa dystonia wywołana wysiłkiem - kurcz pisarski","synonyms":["Rolandic epilepsy exercise-induced dystonia"]},"cs":{"name":"Syndrom zahrnující rolandickou epilepsii, paroxysmální dystonii vyvolanou cvičením a písařskou křeč","synonyms":["Rolandic epilepsy exercise-induced dystonia"]},"uk":{"name":"Синдром роландичної епілепсії-пароксизмальної дистонії, спричиненої фізичними навантаженнями-судом писаря","synonyms":["Дистонія, спричинена фізичними навантаженнями при роландовій епілепсії"],"definition":"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."},"zh":{"name":"Rolandic 癫痫-运动诱发肌张力障碍-书写痉挛综合征","synonyms":["Rolandic癫痫 运动诱发性肌张力障碍"]},"tr":{"name":"Rolandik epilepsi-paroksismal egzersize bağlı distoni-yazar kramp sendromu","synonyms":["Rolandik epilepsi egzersize bağlı distoni"]}},"xrefs":[{"source":"OMIM","code":"608105","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1311096281"},{"source":"MONDO","code":"0011970","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535499","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842531","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31257402[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"10072049[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10072049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-26","source":"10072049[PMID]","terms":[{"hpo":"HP:0012012","label":"EEG with parietal focal spike waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011295","label":"EEG with parietal sharp waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007332","label":"Focal hemifacial clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007104","label":"Prolonged somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002356","label":"Writer's cramp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}