Adult Krabbe disease
ORPHA:206448Clinical subtypeAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0002493Upper motor neuron dysfunction
HP:0034322Reduced galactocerebrosidase activity
Частый (30–79%)13
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001273Abnormal corpus callosum morphology
HP:0002418Abnormality of midbrain morphology
HP:0002922Increased CSF protein concentration
HP:0003202Skeletal muscle atrophy
HP:0003487Babinski sign
HP:0006801Hyperactive deep tendon reflexes
HP:0007199Progressive spastic paraparesis
HP:0007305CNS demyelination
HP:0007361Abnormality of the pons
HP:0012379Abnormal enzyme/coenzyme activity
HP:0031993Hoffmann sign
Периодический (5–29%)21
HP:0000572Visual loss
HP:0000726Dementia
HP:0001268Mental deterioration
HP:0001288Gait disturbance
HP:0002062Morphological abnormality of the pyramidal tract
HP:0002312Clumsiness
HP:0002344Progressive neurologic deterioration
HP:0002353EEG abnormality
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0003474Somatic sensory dysfunction
HP:0003484Upper limb muscle weakness
HP:0004302Functional motor deficit
HP:0004466Prolonged brainstem auditory evoked potentials
HP:0007141Sensorimotor neuropathy
HP:0007340Lower limb muscle weakness
HP:0009830Peripheral neuropathy
HP:0010830Impaired tactile sensation
HP:0011096Peripheral demyelination
HP:0011441Abnormality of the medulla oblongata
HP:0031006Acroparesthesia
Очень редкий (1–4%)8
HP:0000020Urinary incontinence
HP:0001761Pes cavus
HP:0002136Broad-based gait
HP:0002273Tetraparesis
HP:0002301Hemiplegia
HP:0002371Loss of speech
HP:0002492Morphological abnormality of the corticospinal tract
HP:0100639Erectile dysfunction
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)