{"orpha":240071,"name":"Classic progressive supranuclear palsy syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic PSP syndrome","Richardson syndrome","Steele-Richardson-Olszewski disease"],"definition":"A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240071/","orphanet_url":"https://www.orpha.net/en/disease/detail/240071","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive classique","synonyms":["Maladie de Steele-Richardson-Olszewski","Syndrome PSP classique","Syndrome de Richardson"],"definition":"Forme classique de paralysie supranucléaire progressive (PSP), une maladie neurodégénérative rare à début tardif, caractérisée par un ralentissement des saccades verticales, des chutes dues à une instabilité posturale et des troubles cognitifs. Des difficultés d'élocution et de déglutition peuvent être observées."},"de":{"name":"Progressive supranukleäre Blickparese, klassische","synonyms":["PSP, klassische","Richardson-Syndrom","Steele-Richardson-Olszewski-Krankheit"],"definition":"Eine klassische Form der progressiven supranukleären Blickparese (PSP), einer seltenen neurodegenerativen Erkrankung mit spätem Beginn, die durch eine Verlangsamung der vertikalen sakkadischen Augenbewegungen, Stürze aufgrund von Haltungsinstabilität, ein axiales akinetisch-rigides Syndrom und kognitive Beeinträchtigungen gekennzeichnet ist. Es können sich Schwierigkeiten beim Sprechen und Schlucken entwickeln."},"es":{"name":"Síndrome de parálisis supranuclear progresiva clásica","synonyms":["Enfermedad de Steele-Richardson-Olszewski","Síndrome de PSP clásica","Síndrome de Richardson"],"definition":"Es una forma clásica de parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de aparición tardía, caracterizada por una desaceleración de los movimientos sacádicos verticales de los ojos, caídas debido a inestabilidad postural, síndrome axial rígido-acinético y deterioro cognitivo. Los pacientes pueden manifestar dificultades para hablar y tragar."},"it":{"name":"Paralisi sopranucleare progressiva classica","synonyms":["Malattia di Steele-Richardson-Olszewski","PSP classica","Sindrome di Richardson"],"definition":"Si tratta di una forma classica di paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, caratterizzata dal rallentamento dei movimenti oculari saccadici verticali, cadute causate dall'instabilità posturale, sindrome acinesia-rigidità assiale e deficit cognitivo. I pazienti possono sviluppare difficoltà nel linguaggio e nella deglutizione."},"nl":{"name":"Klassieke progressieve supranucleaire paralyse-syndroom","synonyms":["Klassieke PSP-syndroom","Klassieke progressieve supranucleaire verlamming-syndroom","Syndroom van Richardson","Ziekte van Steele-Richardson-Olszewski"],"definition":"Een klassieke vorm van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door vertraging van verticale saccadische oogbewegingen, vallen door posturale instabiliteit, axiaal akinetisch-rigide syndroom, en cognitieve functiestoornis. Spraak- en slikproblemen kunnen ontwikkelen."},"pt":{"name":"Paralisia supranuclear progressiva clássica","definition":"Forma clássica de paralisia supranuclear progressiva (PSP), uma doença neurodegenerativa rara de início tardio, caracterizada por lentificação dos movimentos oculares sacádicos verticais, quedas devido à instabilidade postural, síndrome axial acinético-rígido e compromisso cognitivo, e podem desenvolver dificuldades na fala e na deglutição."},"pl":{"name":"Klasyczne postępujące porażenie nadjądrowe","synonyms":["Choroba Steelea, Richardsona i Olszewskiego","Klasyczne PSP","Zespół Richardsona"]},"cs":{"name":"Klasický syndrom progresivní supranukleární obrny","synonyms":["Klasický PSP syndrom","Steeleho-Richardsonova-Olszewského nemoc","Richardsonův syndrom","Steele-Richardson-Olszewského nemoc"]},"uk":{"name":"Класичний синдром прогресуючого надядерного паралічу","synonyms":["Класичний синдром ПСП","Синдром Річардсона","Хвороба Стіла-Річардсона-Ольшевського"],"definition":"A classical form of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by slowing of vertical saccadic eye movements, falls due to postural instability, axial akinetic-rigid syndrome, and cognitive impairment. Difficulties in speech and swallowing may develop."},"zh":{"name":"经典进行性核上性麻痹综合征","synonyms":["Steele-Richardson-Olszewski病"],"definition":"经典进行性核上性麻痹，也称为Richardson综合征，是进行性核上性麻痹（PSP；见该词条）最常见的临床变异类型，是一种罕见的迟发性神经退行性疾病，其特征是姿势不稳、进行性僵硬、核上性凝视麻痹和轻度痴呆。"},"tr":{"name":"Klasik ilerleyici supranükleer palsi sendromu","synonyms":["Richardson sendromu","Klasik PSP sendromu","Steele-Richardson-Olszewski hastalığı"]}},"xrefs":[{"source":"OMIM","code":"601104","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609454","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610898","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"654320551"},{"source":"MONDO","code":"0010997","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":683,"name":"Progressive supranuclear palsy","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"MAPT","name":"microtubule associated protein tau","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"6893","ensembl":"ENSG00000186868","omim":"157140","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-28","source":"7496773[PMID]_15900030[PMID]_14107684[PMID]_15852377[PMID]_11708994[PMID]_10072441[PMID]_14629785[PMID]_10388790[PMID]_16157753[PMID]_12654952[PMID]_16157754[PMID]_19458322[PMID]_14595660[PMID]","terms":[{"hpo":"HP:0002527","label":"Falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007164","label":"Slowed slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006921","label":"Axial muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007086","label":"Social and occupational deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}