Atypical pantothenate kinase-associated neurodegeneration
ORPHA:216873Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)30
Частый (30–79%)13
HP:0000712Emotional lability
HP:0000716Depression
HP:0000737Irritability
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001300Parkinsonism
HP:0001347Hyperreflexia
HP:0002063Rigidity
HP:0002451Limb dystonia
HP:0002493Upper motor neuron dysfunction
HP:0004373Focal dystonia
HP:0008760Violent behavior
HP:0100710Impulsivity
Периодический (5–29%)10
HP:0000722Compulsive behaviors
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0002015Dysphagia
HP:0002072Chorea
HP:0002167Abnormality of speech or vocalization
HP:0007256Abnormal pyramidal sign
HP:0012048Oromandibular dystonia
HP:0030216Inertia
HP:0100543Cognitive impairment
Очень редкий (1–4%)7
HP:0000488Retinopathy
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0000709Psychosis
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0012473Tongue atrophy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)