Progressive myoclonic epilepsy type 3
ORPHA:263516DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)8
HP:0001249Intellectual disability
HP:0001260Dysarthria
HP:0001336Myoclonus
HP:0002376Developmental regression
HP:0007221Progressive truncal ataxia
HP:0007272Progressive psychomotor deterioration
HP:0011166Focal myoclonic seizure
HP:0011188Focal EEG discharges with secondary generalization
Периодический (5–29%)14
HP:0000252Microcephaly
HP:0000504Abnormality of vision
HP:0000648Optic atrophy
HP:0000726Dementia
HP:0001272Cerebellar atrophy
HP:0001327Photomyoclonic seizures
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002073Progressive cerebellar ataxia
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0011185EEG with focal epileptiform discharges
HP:0012462Chin myoclonus
HP:0045084Limb myoclonus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | Worldwide | Family(ies) |
| 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)