Lethal ataxia with deafness and optic atrophy
ORPHA:1187DiseaseX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)14
HP:0000505Visual impairment
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0001324Muscle weakness
HP:0002300Mutism
HP:0002719Recurrent infections
HP:0002788Recurrent upper respiratory tract infections
HP:0003431Decreased motor nerve conduction velocity
HP:0003444EMG: chronic denervation signs
HP:0007258Severe demyelination of the white matter
HP:0007377Abnormality of somatosensory evoked potentials
HP:0008527Congenital sensorineural hearing impairment
HP:0030272Abnormal erythrocyte enzyme activity
HP:0032169Severe infection
Частый (30–79%)16
HP:0000467Neck muscle weakness
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001284Areflexia
HP:0002342Intellectual disability, moderate
HP:0002445Tetraplegia
HP:0003537Hypouricemia
HP:0004887Respiratory failure requiring assisted ventilation
HP:0008311Spinal cord posterior columns myelin loss
HP:0008936Axial hypotonia
HP:0009830Peripheral neuropathy
HP:0011185EEG with focal epileptiform discharges
HP:0011476Profound sensorineural hearing impairment
HP:0012389Appendicular hypotonia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)