MEPAN syndrome
ORPHA:508093Malformation syndromeAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)3
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0031206Striatal T2 hyperintensity
Частый (30–79%)8
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0002451Limb dystonia
HP:0007663Reduced visual acuity
HP:0012179Craniofacial dystonia
HP:0100660Dyskinesia
Периодический (5–29%)20
HP:0001336Myoclonus
HP:0001508Failure to thrive
HP:0002015Dysphagia
HP:0002059Cerebral atrophy
HP:0002072Chorea
HP:0002315Headache
HP:0002530Axial dystonia
HP:0008314Decreased activity of mitochondrial complex II
HP:0008347Decreased activity of mitochondrial complex IV
HP:0011923Decreased activity of mitochondrial complex I
HP:0011968Feeding difficulties
HP:0012707Elevated brain lactate level by MRS
HP:0025312Esophoria
HP:0032005Hemidystonia
HP:0000649Abnormality of visual evoked potentials
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001272Cerebellar atrophy
HP:0001324Muscle weakness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)