Progressive supranuclear palsy-corticobasal syndrome
ORPHA:240103Clinical subtypeNot applicableAdult
Ассоциированные гены1
Фенотипы (HPO)30
Облигатный (100%)1
HP:0002067Bradykinesia
Очень частый (80–99%)6
HP:0002186Apraxia
HP:0000514Slow saccadic eye movements
HP:0002172Postural instability
HP:0004373Focal dystonia
HP:0007256Abnormal pyramidal sign
HP:0030217Limb apraxia
Частый (30–79%)16
HP:0003474Somatic sensory dysfunction
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0002063Rigidity
HP:0002359Frequent falls
HP:0002374Diminished movement
HP:0001260Dysarthria
HP:0002354Memory impairment
HP:0000511Vertical supranuclear gaze palsy
HP:0002381Aphasia
HP:0001337Tremor
HP:0045084Limb myoclonus
HP:0004305Involuntary movements
HP:0007885Slowed horizontal saccades
HP:0001188Hand clenching
HP:0000570Abnormal saccadic eye movements
HP:0001268Mental deterioration
Периодический (5–29%)5
HP:0002015Dysphagia
HP:0009088Speech articulation difficulties
HP:0006961Jerky head movements
HP:0000751Personality changes
HP:0002548Parkinsonism with favorable response to dopaminergic medication
Очень редкий (1–4%)1
HP:0002098Respiratory distress
Исключён (0%)1
HP:0000743Frontal release signs
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.6 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)