Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
ORPHA:70595DiseaseAutosomal recessiveAdult
Ассоциированные гены2
Фенотипы (HPO)31
Частый (30–79%)21
HP:0000508Ptosis
HP:0000597Ophthalmoparesis
HP:0000639Nystagmus
HP:0001260Dysarthria
HP:0001265Hyporeflexia
HP:0001336Myoclonus
HP:0001751Abnormal vestibular function
HP:0002066Gait ataxia
HP:0002151Increased circulating lactate concentration
HP:0002403Positive Romberg sign
HP:0002495Impaired vibratory sensation
HP:0003200Ragged-red muscle fibers
HP:0003434Sensory ataxic neuropathy
HP:0003557Increased variability in muscle fiber diameter
HP:0003701Proximal muscle weakness
HP:0006858Impaired distal proprioception
HP:0007344Atrophy/Degeneration involving the spinal cord
HP:0008619Bilateral sensorineural hearing impairment
HP:0012696Abnormal thalamic MRI signal intensity
HP:0025331Upgaze palsy
HP:0031422Abnormal morphology of the cerebellar cortex
Периодический (5–29%)10
HP:0000518Cataract
HP:0000716Depression
HP:0001250Seizure
HP:0001284Areflexia
HP:0001644Dilated cardiomyopathy
HP:0002076Migraine
HP:0002354Memory impairment
HP:0002578Gastroparesis
HP:0004389Intestinal pseudo-obstruction
HP:0100543Cognitive impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)