Severe Canavan disease
ORPHA:314911Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)11
HP:0000256Macrocephaly
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001344Absent speech
HP:0002421Poor head control
HP:0002540Inability to walk
HP:0004302Functional motor deficit
HP:0025053Elevated brain N-acetyl aspartate level by MRS
HP:0025405Visual fixation instability
HP:0034649Anti-thyroid-stimulating hormone receptor antibody positivity
Частый (30–79%)16
HP:0000648Optic atrophy
HP:0000737Irritability
HP:0001250Seizure
HP:0001254Lethargy
HP:0001347Hyperreflexia
HP:0001387Joint stiffness
HP:0001612Weak cry
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002069Bilateral tonic-clonic seizure
HP:0002360Sleep abnormality
HP:0003487Babinski sign
HP:0011968Feeding difficulties
HP:0012762Cerebral white matter atrophy
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)4
HP:0000618Blindness
HP:0001257Spasticity
HP:0001355Megalencephaly
HP:0040288Nasogastric tube feeding
Очень редкий (1–4%)3
HP:0002200Pseudobulbar signs
HP:0011471Gastrostomy tube feeding in infancy
HP:0025013Decerebrate rigidity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)