Parkinsonian-pyramidal syndrome
ORPHA:171695DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены2
Фенотипы (HPO)25
Облигатный (100%)2
HP:0001300Parkinsonism
HP:0007256Abnormal pyramidal sign
Частый (30–79%)21
HP:0000011Neurogenic bladder
HP:0000338Hypomimic face
HP:0000514Slow saccadic eye movements
HP:0001257Spasticity
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0001762Talipes equinovarus
HP:0002015Dysphagia
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002080Intention tremor
HP:0002172Postural instability
HP:0002360Sleep abnormality
HP:0002362Shuffling gait
HP:0002367Visual hallucinations
HP:0003487Babinski sign
HP:0011960Substantia nigra gliosis
HP:0012332Abnormal autonomic nervous system physiology
HP:0031435Monotonic speech
HP:0100543Cognitive impairment
Периодический (5–29%)2
HP:0000726Dementia
HP:0100315Lewy bodies
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)