{"orpha":238606,"name":"Primary orthostatic tremor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["POT"],"definition":"A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238606/","orphanet_url":"https://www.orpha.net/en/disease/detail/238606","names":{"fr":{"name":"Tremblement orthostatique primaire","synonyms":["POT","TOP"],"definition":"Tremblement rare caractérisé par un tremblement isolé de haute fréquence (>12&nbsp;Hz) qui se produit en position debout, typiquement dans les muscles porteurs, provoquant une sensation d'instabilité ou d'inconfort, qui disparaît lorsque la personne n'est pas debout."},"de":{"name":"Tremor, orthostatischer primärer","synonyms":["POT"],"definition":"Eine seltene Tremorerkrankung, die durch einen isolierten hochfrequenten (>12 Hz) Tremor gekennzeichnet ist, der beim Stehen auftritt, typischerweise in den gewichtstragenden Muskeln, und ein Gefühl der Unsicherheit oder des Unbehagens verursacht, das verschwindet, wenn man nicht steht."},"es":{"name":"Temblor ortostático primario","synonyms":["POT","TOP"],"definition":"Es un trastorno tremórico poco frecuente caracterizado por un temblor aislado de alta frecuencia (>12 Hz) que se produce en bipedestación, normalmente en los músculos que soportan peso, provocando una sensación de inestabilidad o malestar que desaparece al dejar de estar de pie."},"it":{"name":"Tremore ortostatico primitivo","synonyms":["POT"],"definition":"Il tremore ortostatico primitivo (POT) o \"sindrome delle gambe tremolanti\" è una malattia rara del movimento, caratterizzata da tremore veloce, legato a gesti specifici, che interessa le gambe e il torace, quando il paziente è in piedi."},"nl":{"name":"Primaire orthostatische tremor","synonyms":["POT"],"definition":"Een zeldzame tremor, gekenmerkt door een geïsoleerde tremor met hoge frequentie (meer dan 12Hz) die optreedt bij staan, doorgaans in gewichtsdragende spieren, en die een gevoel van instabiliteit of ongemak veroorzaakt, dat verdwijnt bij niet staan."},"pt":{"name":"Tremor ortostático primário","synonyms":["POT"],"definition":"Doença de tremor rara caracterizado por um tremor isolado de alta frequência (>12 Hz) que ocorre ao ficar em pé, geralmente nos músculos que suportam peso, causando uma sensação de instabilidade ou desconforto, que desaparece quando não se está em pé."},"pl":{"name":"Pierwotne drżenie ortostatyczne","synonyms":["POT"]},"cs":{"name":"Primární ortostatický tremor","synonyms":["POT"]},"uk":{"name":"Первинний ортостатичний тремор","synonyms":["POT"],"definition":"A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing."},"zh":{"name":"原发性直立性震颤","synonyms":["POT"],"definition":"原发性体位性震颤（POT）或“腿不稳综合征”，是一种罕见的运动障碍，其特征是快速、意向性震颤，站立时腿部和躯干受影响。"},"tr":{"name":"Primer ortostatik tremor","synonyms":["POT"]}},"xrefs":[{"source":"ICD-10","code":"G25.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A04.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1246276446"},{"source":"MONDO","code":"0016546","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878578","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8563","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":390.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null}]}}