{"orpha":139426,"name":"Perioral myoclonia with absences","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["POMA"],"definition":"A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139426/","orphanet_url":"https://www.orpha.net/en/disease/detail/139426","names":{"fr":{"name":"Myoclonie périorale avec absence","synonyms":["POMA"],"definition":"Syndrome épileptique rare caractérisé par des crises d'absence avec myoclonies périorales comme principal type de crise, accompagnées de crises tonico-cloniques généralisées, apparaissant avant ou en même temps que les crises d'absence. Une altération de conscience, bien que de degré variable, est généralement observée. Les autres caractéristiques cliniques comprennent souvent l'absence d'état de mal épileptique, une faible réponse aux médicaments antiépileptiques et la persistance des crises à l'âge adulte, en présence d'un développement neurologique et d'une intelligence intacts."},"de":{"name":"Periorale Myoklonie mit Absencen","synonyms":["POMA"],"definition":"Ein seltenes Epilepsiesyndrom, das durch Absence-Anfälle mit perioraler Myoklonie als Hauptanfallstyp gekennzeichnet ist, begleitet von generalisierten tonisch-klonischen Anfällen, die vor oder zusammen mit den Absence-Anfällen auftreten. Das Bewusstsein ist in der Regel beeinträchtigt, wenn auch in unterschiedlichem Ausmaß. Zu den weiteren klinischen Merkmalen dieses Syndroms zählen Status epilepticus (häufig beobachtet), schlechtes Ansprechen auf Antiepileptika und eine Persistenz der Anfälle bis ins Erwachsenenalter bei normalem neurologischem Status und Intelligenz."},"es":{"name":"Mioclonía perioral con ausencias","definition":"Es un síndrome de epilepsia poco frecuente caracterizado por crisis de ausencia con mioclonía perioral como el principal tipo de crisis, acompañadas de crisis tónico-clónicas generalizadas, que se presentan antes o junto con las ausencias. Por lo general, la conciencia suele estar alterada aunque en un grado variable. Como características clínicas adicionales se observan con frecuencia estatus epiléptico de ausencia, respuesta pobre fármacos antiepilépticos y persistencia de crisis en la edad adulta, en presencia de un desarrollo neurológico y de inteligencia normales."},"it":{"name":"Mioclonia periorale con assenze","synonyms":["POMA"],"definition":"La mioclonia periorale con assenza è un'epilessia rara caratterizzata prevalentemente da crisi di assenza con mioclonia periorale, associate a crisi tonico-cloniche generalizzate, che esordiscono prima o in concomitanza con le crisi di assenza. Di solito lo stato di coscienza è variabilmente compromesso. Spesso i pazienti presentano uno stato epilettico di assenza, una scarsa risposta ai farmaci antiepilettici e persistenza delle crisi nell'età adulta, in presenza di un quadro neurologico e un'intelligenza normali."},"nl":{"name":"Periorale myoclonus met absences","synonyms":["POMA"],"definition":"Een zeldzaam epilepsiesyndroom, gekarakteriseerd door absences met periorale myoclonie als voornaamste type epileptische aanval, vergezeld van gegeneraliseerde tonisch-clonische insulten die voor of samen met de absences verschijnen. Het bewustzijn wordt meestal aangetast, zij het in variabele gradaties. Bijkomende klinische kenmerken van dit syndroom zijn vaak waargenomen absence-status, weinig effect van anti-epileptica en het aanhouden van insulten tot in de volwassenheid, in aanwezigheid van een normale neurologische toestand en intelligentie."},"pt":{"name":"Mioclonia perioral com ausências"},"pl":{"name":"Mioklonia okołoustna z napadami nieświadomości","synonyms":["POMA"],"definition":"*Mioklonia okołoustna z napadami nieświadomości jest rzadkim zespołem padaczkowym, który charakteryzuje się napadami nieświadomości z mioklonią okołoustną, którym towarzyszą uogólnione napady toniczno-kloniczne, poprzedzające lub pojawiające się równocześnie z epizodem nieświadomości. Świadomość jest zwykle zaburzona, choć w różnym stopniu. Dodatkowe cechy kliniczne obejmują często występujący stan padaczkowy z wyłączeniem świadomości, słaba odpowiedź na leki przeciwpadaczkowe i utrzymywanie się napadów do wieku dorosłego, przy prawidłowym stanie neurologicznym oraz inteligencji."},"cs":{"name":"Periorální myoklonie s absencemi","synonyms":["POMA"]},"uk":{"name":"Періоральна міоклонія з абсансами","synonyms":["POMA"],"definition":"A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome."},"zh":{"name":"口周肌阵挛伴失神发作","synonyms":["POMA"],"definition":"一种罕见的癫痫综合征，其特征是失神发作伴口周肌阵挛为主要惊厥类型，伴有全身性强直阵挛性癫痫发作，且出现在失身发作之前或同时出现。意识通常不同程度受损。该综合征的其他临床特征是在神经系统状态和智力正常的情况下，常可观察到失神性癫痫状态，对抗癫痫药物反应不佳以及癫痫发作持续到成年。"},"tr":{"name":"Absanslı perioral miyokloni","synonyms":["POMA"]}},"xrefs":[{"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":"1067045592"},{"source":"MONDO","code":"0015345","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707846","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":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-10","source":"9253489[PMID]_21570919[PMID]_15820362[PMID]","terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012462","label":"Chin myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011168","label":"Eyelid myoclonias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null}]}}