Dopa-responsive dystonia due to sepiapterin reductase deficiency
ORPHA:70594DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Частый (30–79%)21
HP:0000338Hypomimic face
HP:0000366Abnormality of the nose
HP:0000508Ptosis
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0000975Hyperhidrosis
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002329Drowsiness
HP:0002360Sleep abnormality
HP:0002509Limb hypertonia
HP:0005968Temperature instability
HP:0008936Axial hypotonia
HP:0010553Oculogyric crisis
HP:0100543Cognitive impairment
Периодический (5–29%)5
HP:0000252Microcephaly
HP:0001250Seizure
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0100021Cerebral palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 43 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)