Sporadic infantile bilateral striatal necrosis
ORPHA:225147DiseaseNot applicableAll ages
Фенотипы (HPO)38
Частый (30–79%)10
HP:0030215Inappropriate crying
HP:0100022Abnormality of movement
HP:0000273Facial grimacing
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001328Specific learning disability
HP:0002015Dysphagia
HP:0002533Abnormal posturing
HP:0002788Recurrent upper respiratory tract infections
HP:0008936Axial hypotonia
Периодический (5–29%)28
HP:0000020Urinary incontinence
HP:0000298Mask-like facies
HP:0000338Hypomimic face
HP:0000736Short attention span
HP:0001288Gait disturbance
HP:0001300Parkinsonism
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002033Poor suck
HP:0002066Gait ataxia
HP:0002067Bradykinesia
HP:0002072Chorea
HP:0002300Mutism
HP:0002301Hemiplegia
HP:0002307Drooling
HP:0002322Resting tremor
HP:0002465Poor speech
HP:0003487Babinski sign
HP:0004372Reduced consciousness/confusion
HP:0005366Recurrent streptococcus pneumoniae infections
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0007185Loss of consciousness
HP:0007359Focal-onset seizure
HP:0008947Floppy infant
HP:0011151Obtundation status
HP:0025439Pharyngitis
HP:0030187Titubation
HP:0040288Nasogastric tube feeding
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)