Adult-onset dystonia-parkinsonism
ORPHA:199351DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)22
HP:0000338Hypomimic face
HP:0000571Hypometric saccades
HP:0000658Eyelid apraxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002145Frontotemporal dementia
HP:0002172Postural instability
HP:0002185Neurofibrillary tangles
HP:0002312Clumsiness
HP:0002548Parkinsonism with favorable response to dopaminergic medication
HP:0004373Focal dystonia
HP:0006892Frontotemporal cerebral atrophy
HP:0007058Generalized cerebral atrophy/hypoplasia
HP:0007153Progressive extrapyramidal movement disorder
HP:0010522Dyslexia
HP:0025262Stiff hip
HP:0040081Abnormal circulating creatine kinase concentration
Периодический (5–29%)10
HP:0000605Supranuclear gaze palsy
HP:0000716Depression
HP:0000746Delusion
HP:0000751Personality changes
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0011999Paranoia
HP:0012675Iron accumulation in brain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)