Infantile neuroaxonal dystrophy
ORPHA:35069DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)3
HP:0001272Cerebellar atrophy
HP:0002361Psychomotor deterioration
HP:0002376Developmental regression
Частый (30–79%)22
HP:0000648Optic atrophy
HP:0000649Abnormality of visual evoked potentials
HP:0001251Ataxia
HP:0001268Mental deterioration
HP:0001285Spastic tetraparesis
HP:0001347Hyperreflexia
HP:0002191Progressive spasticity
HP:0002317Unsteady gait
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0002483Bulbar signs
HP:0002500Abnormal cerebral white matter morphology
HP:0003134Abnormality of peripheral nerve conduction
HP:0003405Diffuse axonal swelling
HP:0003444EMG: chronic denervation signs
HP:0003477Peripheral axonal neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007256Abnormal pyramidal sign
HP:0008936Axial hypotonia
HP:0009830Peripheral neuropathy
HP:0012675Iron accumulation in brain
HP:0012698Cerebellar gliosis
HP:0025435Increased circulating lactate dehydrogenase concentration
Периодический (5–29%)21
HP:0000486Strabismus
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001371Flexion contracture
HP:0002019Constipation
HP:0002307Drooling
HP:0005968Temperature instability
HP:0011951Aspiration pneumonia
HP:0012043Pendular nystagmus
HP:0012332Abnormal autonomic nervous system physiology
HP:0100710Impulsivity
Очень редкий (1–4%)6
HP:0001250Seizure
HP:0005949Apneic episodes in infancy
HP:0010545Downbeat nystagmus
HP:0025331Upgaze palsy
HP:0030842Choking episodes
HP:0031358Vegetative state
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)