{"orpha":99750,"name":"Atypical progressive supranuclear palsy syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Atypical PSP syndrome"],"definition":"A form of progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99750/","orphanet_url":"https://www.orpha.net/en/disease/detail/99750","names":{"fr":{"name":"Syndrome de paralysie supranucléaire progressive atypique","synonyms":["Syndrome PSP atypique"],"definition":"Forme de syndrome de paralysie supranucléaire progressive (PSP), une maladie neurodégénérative rare à début tardif, caractérisée par une tauopathie sous-jacente qui se distingue du tableau classique de la PSP. Le phénotype clinique est inconstant et comprend la PSP-P (PSP-parkinsonisme), la PSP-PGF (PSP-akinésie pure avec freezing de la marche), la PSP-CBS (PSP-syndrome corticobasal), la PSP-SL (PSP-aphasie progressive non fluente), la PSP-F (PSP avec prédominance des présentations frontales), la PSP-OM (PSP avec prédominance de troubles oculomoteurs) et la PSP-PI (PSP avec prédominance de l'instabilité posturale)."},"de":{"name":"Progressive supranukleäre Blickparese, atypische","synonyms":["Atypische PSP"],"definition":"Eine atypische Variante der progressiven supranukleären Blickparese (PSP), einer seltenen neurodegenerativen Erkrankung mit spätem Beginn, die durch eine zugrunde liegende PSP-Tau-Pathologie gekennzeichnet ist und nicht dem klassischen Bild der PSP entspricht. Der klinische Phänotyp ist variabel und umfasst PSP mit prädominantem Parkinson-Syndrom (PSP-P), PSP mit progredienter Gangstörung (PSP-PGF), PSP mit prädominantem kortikobasalem Syndrom (PSP-CBS), PSP mit prädominanter Sprachstörung (PSP-SL), PSP mit prädominanter frontaler Präsentation (PSP-F), PSP mit prädominanter okulärer motorischer Dysfunktion (PSP-OM) und PSP mit prädominanter posturaler Instabilität (PSP-PI)."},"es":{"name":"Síndrome de parálisis supranuclear progresiva atípica","synonyms":["Síndrome de PSP atípica"],"definition":"Es una forma del síndrome de parálisis supranuclear progresiva (PSP), una enfermedad neurodegenerativa poco frecuente de inicio tardío, caracterizada por una patología PSP-Tau subyacente, que no se ajusta a la presentación clásica de la PSP. El fenotipo clínico es variable y comprende la PSP con parkinsonismo predominante (PSP-P), la PSP con congelación progresiva de la marcha (PSP-PGF), la PSP con síndrome corticobasal predominante (PSP-CBS), la PSP con trastorno del habla/lenguaje predominante (PSP-SL), la PSP con presentación frontal predominante (PSP-F), la PSP con disfunción motora ocular predominante (PSP-OM) y la PSP con inestabilidad postural predominante (PSP-PI)."},"it":{"name":"Paralisi sopranucleare progressiva atipica","synonyms":["PSP atipica"],"definition":"Si tratta di una forma di paralisi sopranucleare progressiva (PSP), una malattia neurodegenerativa rara ad esordio tardivo, caratterizzata da una preesistente PSP-taupatia, non riconducibile al quadro clinico classico della PSP. Il fenotipo clinico è variabile e comprende la PSP con parkinsonismo (PSP-P), la PSP con blocco progressivo della marcia (PSP-PGF), la PSP con sindrome corticobasale (PSP-CBS), la PSP con anomalie del linguaggio (PSP-SL), la PSP con presentazione frontale (PSP-F), la PSP con disfunzione motoria oculare (PSP-OM) e la PSP con instabilità posturale (PSP-PI)."},"nl":{"name":"Atypische progressieve supranucleaire paralyse-syndroom","synonyms":["Atypische PSP-syndroom","Atypische progressieve supranucleaire verlamming-syndroom"],"definition":"Een klassieke vorm van progressieve supranucleaire paralyse (PSP), een zeldzame neurodegeneratieve aandoening met late aanvang, gekenmerkt door een onderliggende PSP-tau pathologie, die niet overeenstemt met de klassieke presentatie van PSP. Het klinische fenotype is variabel, en omvat PSP met predominant parkinsonisme (PSP-P), PSP met progressieve gangblokkade (PSP-PGF), PSP met predominant corticobasaal syndroom (PSP-CBS), PSP met predominante spraak-/taalstoornis (PSP-SL), PSP met predominante frontale presentatie (PSP-F), PSP met predominante oculaire motorische disfunctie (PSP-OM), en PSP met predominante posturale instabiliteit (PSP-PI)."},"pt":{"name":"Síndrome de paralisia supranuclear progressiva atípica","definition":"Uma forma ou uma síndrome de paralisia supranuclear progressiva (PSP), doença neurodegenerativa rara de início tardio, caracterizada por uma patologia PSP-tau subjacente, e que não está em conformidade com a apresentação clínica clássica de PSP. O fenótipo clínico é variável e compreende PSP com parkinsonismo predominante (PSP-P), PSP com lentificação progressivo da marcha (PSP-PGF), PSP com síndrome corticobasal predominante (PSP-CBS), PSP com distúrbio de fala/linguagem predominante (PSP-SL ), PSP com apresentação predominantemente frontal (PSP-F), PSP com disfunção ocular motora predominante (PSP-OM) e PSP com instabilidade postural predominante (PSP-PI)."},"pl":{"name":"Atypowe postępujące porażenie nadjądrowe","synonyms":["Atypowe PSP"]},"cs":{"name":"Syndrom atypické progresivní supranukleární obrny","synonyms":["Atypický PSP syndrom"]},"uk":{"name":"Атиповий синдром прогресуючого надядерного паралічу","synonyms":["Атиповий синдром ПСП"],"definition":"A form of progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI)."},"zh":{"name":"非典型进行性核上性麻痹综合征","synonyms":["非典型PSP综合征"],"definition":"非典型进行性核上性麻痹综合征是一组与潜在的PSP-tau病理相关的临床症状，不符合进行性核上性麻痹(Richardson综合征)的经典表现，PSP是一种罕见的晚发性神经退行性疾病。本组包括PSP-帕金森综合征(PSP-P)、PSP-单纯动作障碍伴步态冻结(PSP-PAGF)、PSP-皮质基底节综合征(PSP-CBS)和PSP-进行性非流利性失语(PSP-PNFA)。"},"tr":{"name":"Atipik ilerleyici supranükleer felç sendromu","synonyms":["Atipik PSP sendromu"]}},"xrefs":[{"source":"OMIM","code":"260540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"471240985"},{"source":"MONDO","code":"0020488","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4507","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":[{"orpha":240103,"name":"Progressive supranuclear palsy-corticobasal syndrome","type":"Clinical subtype"},{"orpha":240085,"name":"Progressive supranuclear palsy-predominant parkinsonism syndrome","type":"Clinical subtype"},{"orpha":240112,"name":"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome","type":"Clinical subtype"},{"orpha":240094,"name":"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-26","source":"6685236[PMID]_11220749[PMID]_14991829[PMID]","terms":[{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025330","label":"Downgaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007076","label":"Extrapyramidal muscular rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005329","label":"Fixed facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031825","label":"Freezing of gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006977","label":"Grammar-specific speech disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000719","label":"Inappropriate behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}