Huntington disease-like 3
ORPHA:157946DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)22
Частый (30–79%)22
HP:0000020Urinary incontinence
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001257Spasticity
HP:0001332Dystonia
HP:0001371Flexion contracture
HP:0002071Abnormality of extrapyramidal motor function
HP:0002072Chorea
HP:0002120Cerebral cortical atrophy
HP:0002136Broad-based gait
HP:0002167Abnormality of speech or vocalization
HP:0002300Mutism
HP:0002340Caudate atrophy
HP:0002361Psychomotor deterioration
HP:0002457Abnormal head movements
HP:0002607Bowel incontinence
HP:0005327Loss of facial expression
HP:0007076Extrapyramidal muscular rigidity
HP:0007240Progressive gait ataxia
HP:0007256Abnormal pyramidal sign
HP:0007308Extrapyramidal dyskinesia
HP:0100543Cognitive impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)