Late-infantile/juvenile Krabbe disease
ORPHA:206443Clinical subtypeAutosomal recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)2
HP:0002922Increased CSF protein concentration
HP:0034322Reduced galactocerebrosidase activity
Частый (30–79%)24
HP:0000365Hearing impairment
HP:0000565Esotropia
HP:0000572Visual loss
HP:0000649Abnormality of visual evoked potentials
HP:0000708Atypical behavior
HP:0000762Decreased nerve conduction velocity
HP:0001264Spastic diplegia
HP:0001268Mental deterioration
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0002061Lower limb spasticity
HP:0002312Clumsiness
HP:0002313Spastic paraparesis
HP:0002359Frequent falls
HP:0002371Loss of speech
HP:0002376Developmental regression
HP:0002493Upper motor neuron dysfunction
HP:0002505Loss of ambulation
HP:0004302Functional motor deficit
HP:0004466Prolonged brainstem auditory evoked potentials
HP:0007141Sensorimotor neuropathy
HP:0009830Peripheral neuropathy
HP:0010846EEG with persistent abnormal rhythmic activity
HP:0011400Abnormal CNS myelination
Периодический (5–29%)19
HP:0001337Tremor
HP:0001350Slurred speech
HP:0001761Pes cavus
HP:0002068Neuromuscular dysphagia
HP:0002301Hemiplegia
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002445Tetraplegia
HP:0003484Upper limb muscle weakness
HP:0007018Attention deficit hyperactivity disorder
HP:0008936Axial hypotonia
HP:0010830Impaired tactile sensation
HP:0011968Feeding difficulties
HP:0031006Acroparesthesia
HP:0000505Visual impairment
HP:0000618Blindness
HP:0000712Emotional lability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001260Dysarthria
Очень редкий (1–4%)1
HP:0000737Irritability
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)