Ataxia with vitamin E deficiency
ORPHA:96DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)7
HP:0001251Ataxia
HP:0001284Areflexia
HP:0001324Muscle weakness
HP:0003487Babinski sign
HP:0007256Abnormal pyramidal sign
HP:0009830Peripheral neuropathy
HP:0100513Low levels of vitamin E
Частый (30–79%)14
HP:0000639Nystagmus
HP:0000662Nyctalopia
HP:0000763Sensory neuropathy
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001310Dysmetria
HP:0001761Pes cavus
HP:0002075Dysdiadochokinesis
HP:0002167Abnormality of speech or vocalization
HP:0002312Clumsiness
HP:0002599Head titubation
HP:0002650Scoliosis
HP:0010831Impaired proprioception
Периодический (5–29%)15
HP:0000012Urinary urgency
HP:0000505Visual impairment
HP:0000649Abnormality of visual evoked potentials
HP:0000819Diabetes mellitus
HP:0001268Mental deterioration
HP:0001276Hypertonia
HP:0001332Dystonia
HP:0001337Tremor
HP:0001639Hypertrophic cardiomyopathy
HP:0002376Developmental regression
HP:0002403Positive Romberg sign
HP:0003202Skeletal muscle atrophy
HP:0004374Hemiplegia/hemiparesis
HP:0007703Abnormality of retinal pigmentation
HP:0011675Arrhythmia
Очень редкий (1–4%)1
HP:0000580Pigmentary retinopathy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.33 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)