Classic progressive supranuclear palsy syndrome
ORPHA:240071Clinical subtypeNot applicableAdult
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0002172Postural instability
HP:0002527Falls
HP:0001268Mental deterioration
Частый (30–79%)17
HP:0000514Slow saccadic eye movements
HP:0030953Conjunctival hyperemia
HP:0000633Decreased lacrimation
HP:0000622Blurred vision
HP:0000643Blepharospasm
HP:0000613Photophobia
HP:0100710Impulsivity
HP:0007164Slowed slurred speech
HP:0000605Supranuclear gaze palsy
HP:0001300Parkinsonism
HP:0002067Bradykinesia
HP:0002141Gait imbalance
HP:0000511Vertical supranuclear gaze palsy
HP:0002530Axial dystonia
HP:0001260Dysarthria
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0000570Abnormal saccadic eye movements
Периодический (5–29%)8
HP:0007086Social and occupational deterioration
HP:0002068Neuromuscular dysphagia
HP:0006921Axial muscle stiffness
HP:0002304Akinesia
HP:0001337Tremor
HP:0001332Dystonia
HP:0007256Abnormal pyramidal sign
HP:0002548Parkinsonism with favorable response to dopaminergic medication
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)