Huntington disease-like 1
ORPHA:157941DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)1
HP:0002072Chorea
Частый (30–79%)10
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000726Dementia
HP:0000746Delusion
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0002066Gait ataxia
HP:0002119Ventriculomegaly
HP:0004305Involuntary movements
HP:0100543Cognitive impairment
Периодический (5–29%)33
HP:0000298Mask-like facies
HP:0000496Abnormality of eye movement
HP:0000514Slow saccadic eye movements
HP:0000570Abnormal saccadic eye movements
HP:0000617Abnormality of ocular smooth pursuit
HP:0000639Nystagmus
HP:0000711Restlessness
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001350Slurred speech
HP:0001824Weight loss
HP:0002067Bradykinesia
HP:0002120Cerebral cortical atrophy
HP:0002134Abnormality of the basal ganglia
HP:0002171Gliosis
HP:0002311Incoordination
HP:0002312Clumsiness
HP:0002353EEG abnormality
HP:0002354Memory impairment
HP:0002359Frequent falls
HP:0002375Hypokinesia
HP:0002457Abnormal head movements
HP:0002533Abnormal posturing
HP:0003043Abnormality of the shoulder
HP:0006801Hyperactive deep tendon reflexes
HP:0006961Jerky head movements
HP:0007010Poor fine motor coordination
HP:0008003Jerky ocular pursuit movements
HP:0011446Abnormality of higher mental function
HP:0040201Simultanapraxia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)