{"orpha":401953,"name":"Episodic ataxia with slurred speech","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Episodic ataxia type 8"],"definition":"Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401953/","orphanet_url":"https://www.orpha.net/en/disease/detail/401953","names":{"fr":{"name":"Ataxie épisodique avec troubles de l'élocution","synonyms":["Ataxie épisodique type 8"],"definition":"Ataxie héréditaire rare caractérisée par des épisodes récurrents d'ataxie de fréquence et de durée variables, associés à des troubles de l'élocution, une faiblesse musculaire généralisée et un trouble de l'équilibre. D'autres symptômes peuvent survenir entre les épisodes, dont des tremblements intentionnels, une ataxie de la marche, une légère dysarthrie, une myokymie, des migraines et un nystagmus."},"de":{"name":"Episodische Ataxie mit undeutlicher Aussprache","synonyms":["Ataxie, episodische, Typ 8"]},"es":{"name":"Ataxia episódica con trastornos del habla","synonyms":["Ataxia episódica tipo 8"],"definition":"La ataxia episódica con trastornos del habla, es una ataxia hereditaria poco frecuente, caracterizada por episodios recurrentes de ataxia de frecuencia y duración variables, asociada a problemas de dicción, debilidad muscular generalizada y alteración del equilibrio. Otros síntomas que pueden presentarse entre episodios incluyen temblor intencional, ataxia de la marcha, disartria leve, mioquimia, migraña y nistagmo."},"it":{"name":"Atassia episodica con difficoltà del linguaggio","synonyms":["Atassia episodica, tipo 8"],"definition":"L'atassia episodica con difficoltà del linguaggio è un'atassia ereditaria rara, caratterizzata da episodi ricorrenti di atassia di frequenza e durata variabile, associati a difficoltà nell'eloquio, debolezza muscolare generalizzata e disturbi dell'equilibrio. Tra un episodio e l'altro, possono insorgere altri sintomi, come il tremore intenzionale, l'andatura atassica, la disartria lieve, la miochimia, l'emicrania e il nistagmo."},"nl":{"name":"Episodische ataxie met onduidelijke spraak","synonyms":["Episodische ataxie type 8"],"definition":"Episodische ataxie met onduidelijke spraak is een zeldzame, erfelijke ataxie die gekarakteriseerd wordt door recurrente episodes van ataxie met variabele frequentie en tijdsduur, geassocieerd met onduidelijke spraak, gegeneraliseerde spierzwakte en evenwichtsstoornis. Tussen episodes kunnen andere symptomen voorkomen, waaronder intentietremor, gangataxie, milde dysartrie, myokymie, migraine en nystagmus."},"pt":{"name":"Ataxia episódica com discurso arrastado"},"pl":{"name":"Epizodyczna ataksja z niewyraźną mową","synonyms":["Epizodyczna ataksja typu 8"],"definition":"*Epizodyczna ataksja z niewyraźną mową jest rzadką dziedziczną ataksją, która charakteryzuje się nawracającymi epizodami ataksji o zmiennej częstotliwości i czasie trwania, związanymi z niewyraźną mową, uogólnionym osłabieniem mięśni i zaburzeniami równowagi. Pomiędzy epizodami ataksji mogą występować inne objawy, w tym drżenie zamiarowe, niezborny chód, łagodna dyzartria, miokimie, migrena i oczopląs."},"cs":{"name":"Epizodická ataxie se setřelou řečí","synonyms":["Epizodická ataxie, typ 8"]},"uk":{"name":"Епізодична атаксія з невиразним мовленням","synonyms":["Епізодична атаксія типу 8"],"definition":"Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus."},"zh":{"name":"发作性共济失调伴言语不清","synonyms":["发作性共济失调8型"],"definition":"阵发性共济失调伴言语不清是一种罕见的遗传性共济失调，其特征是反复发作的频率和持续时间不定的共济失调，伴有言语不清，全身性肌无力和平衡障碍。发作间期可能还会出现其他症状，包括意向性震颤，步态共济失调，轻度构音障碍，肌强直，偏头痛和眼球震颤"},"tr":{"name":"Geveleyerek konuşma ile seyreden epizodik ataksi","synonyms":["Epizodik ataksi tip 8"]}},"xrefs":[{"source":"OMIM","code":"616055","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":211062,"name":"Hereditary episodic ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"23982692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23982692[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-23","source":"23982692[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002411","label":"Myokymia","frequency":"Occasional (29-5%)","criteria":null}]}}