Childhood-onset spasticity with hyperglycinemia
ORPHA:401866DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)2
HP:0002191Progressive spasticity
HP:0008288Nonketotic hyperglycinemia
Частый (30–79%)14
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000736Short attention span
HP:0001264Spastic diplegia
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0002317Unsteady gait
HP:0002415Leukodystrophy
HP:0002464Spastic dysarthria
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0003487Babinski sign
HP:0008945Loss of ability to walk in early childhood
HP:0100561Spinal cord lesion
Периодический (5–29%)6
HP:0000737Irritability
HP:0001251Ataxia
HP:0001290Generalized hypotonia
HP:0001336Myoclonus
HP:0002376Developmental regression
HP:0011968Feeding difficulties
Очень редкий (1–4%)1
HP:0001712Left ventricular hypertrophy
Исключён (0%)2
HP:0002151Increased circulating lactate concentration
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)