Susac syndrome
ORPHA:838DiseaseUnknownAll ages
Фенотипы (HPO)23
Очень частый (80–99%)1
HP:0002315Headache
Частый (30–79%)6
HP:0000407Sensorineural hearing impairment
HP:0000572Visual loss
HP:0001273Abnormal corpus callosum morphology
HP:0001289Confusion
HP:0001290Generalized hypotonia
HP:0100543Cognitive impairment
Периодический (5–29%)16
HP:0000360Tinnitus
HP:0000496Abnormality of eye movement
HP:0000651Diplopia
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000741Apathy
HP:0000751Personality changes
HP:0001254Lethargy
HP:0001260Dysarthria
HP:0001324Muscle weakness
HP:0002017Nausea and vomiting
HP:0002066Gait ataxia
HP:0002321Vertigo
HP:0002493Upper motor neuron dysfunction
HP:0003474Somatic sensory dysfunction
HP:0100851Abnormal emotion/affect behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 304 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)