Atypical progressive supranuclear palsy syndrome
ORPHA:99750Clinical subtypeAdult, Elderly
Фенотипы (HPO)28
Облигатный (100%)1
HP:0001300Parkinsonism
Частый (30–79%)18
HP:0000496Abnormality of eye movement
HP:0000597Ophthalmoparesis
HP:0000643Blepharospasm
HP:0000657Oculomotor apraxia
HP:0000726Dementia
HP:0001268Mental deterioration
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002317Unsteady gait
HP:0002527Falls
HP:0002751Kyphoscoliosis
HP:0005329Fixed facial expression
HP:0007076Extrapyramidal muscular rigidity
HP:0009088Speech articulation difficulties
HP:0010526Dysgraphia
HP:0011098Speech apraxia
HP:0025330Downgaze palsy
HP:0031825Freezing of gait
Периодический (5–29%)9
HP:0000719Inappropriate behavior
HP:0001260Dysarthria
HP:0001337Tremor
HP:0004302Functional motor deficit
HP:0004373Focal dystonia
HP:0006801Hyperactive deep tendon reflexes
HP:0006977Grammar-specific speech disorder
HP:0007256Abnormal pyramidal sign
HP:0010522Dyslexia
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)