Autosomal recessive dopa-responsive dystonia
ORPHA:101150DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)33
Частый (30–79%)28
HP:0000508Ptosis
HP:0000737Irritability
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001270Motor delay
HP:0001300Parkinsonism
HP:0001336Myoclonus
HP:0001348Brisk reflexes
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002019Constipation
HP:0002063Rigidity
HP:0002066Gait ataxia
HP:0002067Bradykinesia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002174Postural tremor
HP:0002375Hypokinesia
HP:0002395Lower limb hyperreflexia
HP:0002451Limb dystonia
HP:0003487Babinski sign
HP:0003781Excessive salivation
HP:0003785Decreased CSF homovanillic acid concentration
HP:0004373Focal dystonia
HP:0010553Oculogyric crisis
HP:0011968Feeding difficulties
HP:0030166Night sweats
Периодический (5–29%)3
HP:0001256Intellectual disability, mild
HP:0001945Fever
HP:0007325Generalized dystonia
Очень редкий (1–4%)2
HP:0001290Generalized hypotonia
HP:0002448Progressive encephalopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)