Sporadic adult-onset ataxia of unknown etiology
ORPHA:247234DiseaseNot applicableAdult, Elderly
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0000496Abnormality of eye movement
HP:0001251Ataxia
HP:0002066Gait ataxia
Частый (30–79%)8
HP:0000572Visual loss
HP:0000608Macular degeneration
HP:0000640Gaze-evoked nystagmus
HP:0002354Memory impairment
HP:0007670Abnormal vestibulo-ocular reflex
HP:0007772Impaired smooth pursuit
HP:0008278Cerebellar cortical atrophy
HP:0012332Abnormal autonomic nervous system physiology
Периодический (5–29%)14
HP:0000338Hypomimic face
HP:0000763Sensory neuropathy
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001291Abnormal cranial nerve morphology
HP:0001300Parkinsonism
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002063Rigidity
HP:0002075Dysdiadochokinesis
HP:0002304Akinesia
HP:0002322Resting tremor
HP:0002362Shuffling gait
HP:0003487Babinski sign
Очень редкий (1–4%)3
HP:0000020Urinary incontinence
HP:0000726Dementia
HP:0002080Intention tremor
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.6 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.9 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.4 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)