Spinocerebellar ataxia with epilepsy
ORPHA:254881DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)28
Частый (30–79%)28
HP:0000182Movement abnormality of the tongue
HP:0000508Ptosis
HP:0000597Ophthalmoparesis
HP:0000640Gaze-evoked nystagmus
HP:0000648Optic atrophy
HP:0000716Depression
HP:0000739Anxiety
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0001337Tremor
HP:0002066Gait ataxia
HP:0002073Progressive cerebellar ataxia
HP:0002075Dysdiadochokinesis
HP:0002076Migraine
HP:0002151Increased circulating lactate concentration
HP:0002344Progressive neurologic deterioration
HP:0002448Progressive encephalopathy
HP:0003198Myopathy
HP:0003348Hyperalaninemia
HP:0003390Sensory axonal neuropathy
HP:0006554Acute hepatic failure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0012377Hemianopia
HP:0012692Focal T2 hyperintense thalamic lesion
HP:0025722Cerebral infarct
HP:0033720EEG with occipital epileptiform discharges
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)