{"orpha":306692,"name":"Cyanide-induced parkinsonism-dystonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306692/","orphanet_url":"https://www.orpha.net/en/disease/detail/306692","names":{"fr":{"name":"Parkinsonisme-dystonie par intoxication au cyanure","definition":"Syndrome parkinsonien rare dû à une intoxication qui se développe chez les personnes ayant survécu à un épisode d'intoxication aiguë au cyanure ou à une exposition chronique à de faibles doses de cyanure. Il se manifeste plusieurs semaines après l'exposition aiguë par des caractéristiques cliniques progressives typiques du parkinsonisme, à savoir bradykinésie, rigidité, dystonie, hypomimie, dysarthrie hypokinétique, instabilité posturale et rétropulsion, en l'absence de tremblements au repos ou posturaux. L'IRM cérébrale révèle des lésions bilatérales dans le pallidum, le putamen postérieur, la substantia nigra, le noyau subthalamique, les cortex temporal et occipital et le cervelet."},"de":{"name":"Zyanid-induzierter Parkinsonismus","definition":"Ein seltenes Parkinson-Syndrom aufgrund einer Intoxikation. Er entwickelt sich bei Personen, die eine akute Zyanid-Intoxikationsepisode oder eine chronischen Exposition gegenüber kleinen Zyaniddosen überleben. Es tritt mehrere Wochen nach der akuten Exposition mit progressiven typischen klinischen Merkmalen des Parkinsonismus auf, einschließlich Bradykinesie, Rigidität, Dystonie, Hypomimie, hypokinetische Dysarthrie, posturale Instabilität und Retropulsion, aber kein Ruhe- oder posturaler Tremor. Die MRT des Gehirns zeigt bilaterale Läsionen im Pallidum, im hinteren Putamen, in der Substantia nigra, im Nucleus subthalamicus, im temporalen und okzipitalen Kortex und im Kleinhirn."},"es":{"name":"Distonía-parkinsonismo inducido por cianuro","definition":"Es un síndrome parkinsoniano poco frecuente que se desarrolla en individuos que sobreviven a un episodio de intoxicación aguda o exposición crónica a bajas dosis de cianuro. Se presenta varias semanas después de la exposición aguda con los hallazgos clínicos típicos progresivos del parkinsonismo, que incluyen bradicinesia, rigidez, distonía, hipomimia, disartria hipocinética, inestabilidad postural y retropulsión, pero sin temblor de reposo ni postural. La resonancia magnética cerebral revela lesiones bilaterales del globo pálido, putamen posterior, sustancia negra, núcleo subtalámico, córtex temporal y occipital, y cerebelo."},"it":{"name":"Parkinsonismo da cianuro","definition":"Il parkinsonismo da cianuro è un'intossicazione rara che insorge nei soggetti sopravvissuti a un avvelenamento acuto da cianuro o a un'esposizione cronica a piccole dosi. Esordisce diverse settimane dopo l'esposizione acuta con i segni clinici progressivi caratteristici del parkinsonismo, che comprendono la bradicinesia, la rigidità, la distonia, l'ipomimia, la disartria ipocinetica, l'instabilità posturale e la retropulsione, in assenza di tremore posturale o a riposo. La RMN del cervello evidenzia lesioni bilaterali nel globo pallido, nel putamen posteriore, nella substantia nigra, nel nucleo subtalamico, nella corteccia temporale e occipitale e nel cervelletto."},"nl":{"name":"Parkinsonisme-dystonie geïnduceerd door cyanide","definition":"Een zeldzaam parkinsonisme-syndroom door intoxicatie, die ontwikkelt bij individuen die een episode van acute cyanide-intoxicatie hebben overleefd of door chronische blootstelling aan kleine doses cyanide. De aandoening zich enkele weken na acute blootstelling met progressieve typische klinische kenmerken van parkinsonisme, waaronder bradykinesie, rigiditeit, dystonie, hypomimie, hypokinetische dysartrie, posturale instabiliteit en retropulsie, maar geen rust- of posturale tremor. MRI van hersenen toont bilaterale laesies in pallidum, posterieur putamen, substantia nigra, nucleus subthalamicus, temporale en occipitale cortex, en cerebellum."},"pt":{"name":"Parkinson induzido pelo cianeto"},"pl":{"name":"Parkinsonizm indukowany cyjankiem","definition":"*Parkinsonizm indukowany cyjankiem jest rzadkim zespołem parkinsonizmu, który rozwija się wskutek intoksykacji u osób, które przeżyły ostry epizod zatrucia cyjankiem lub były przewlekle eksponowane na małe dawki cyjanku. Pojawia się kilka tygodni po ostrej ekspozycji pod postacią postępujących klinicznych objawów typowych dla parkinsonizmu, takich jak spowolnienie ruchów, sztywność, dystonia, osłabiona mimika twarzy, spowolnienie mowy, niestabilność postawy i upadki do tyłu, ale bez spoczynkowego lub posturalnego drżenia. Na obrazach MRI mózgu widoczne są obustronne zmiany w gałkach bladych, skorupie tylnej, istocie czarnej, jądrach podwzgórza, korze skroniowej i potylicznej oraz móżdżku."},"cs":{"name":"Parkinsonismus indukovaný kyanidem"},"uk":{"name":"Паркінсонізм-дистонія, спричинена ціанідами","definition":"A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum."},"zh":{"name":"氰化物引起的帕金森综合症-肌张力障碍","definition":"氰化物诱发的帕金森综合征是一种罕见的由中毒引起的帕金森综合征，在急性氰化物中毒或慢性小剂量氰化物接触后发生。急性暴露后数周出现典型帕金森病临床特征，包括运动迟缓、僵硬、肌张力障碍、表情缺乏、运动过弱型构音障碍、姿势不稳和后移位，但无静止性或姿势性震颤。脑部核磁共振显示双侧苍白球、后壳核、黑质、丘脑下核、颞枕叶皮质以及小脑。"},"tr":{"name":"Siyanür kaynaklı parkinsonizm-distoni"}},"xrefs":[{"source":"ICD-10","code":"G21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1717111858"},{"source":"MONDO","code":"0017640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17640","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707859","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":556508,"name":"Rare disorder due to poisoning","classifications":[204]},{"orpha":306679,"name":"Rare parkinsonian syndrome due to intoxication","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-30","source":"2733710[PMID]","terms":[{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004673","label":"Decreased facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007975","label":"Hypometric horizontal saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007311","label":"Short stepped shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}