Spinocerebellar ataxia type 1
ORPHA:98755DiseaseAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)2
HP:0002073Progressive cerebellar ataxia
HP:0009830Peripheral neuropathy
Частый (30–79%)21
HP:0000496Abnormality of eye movement
HP:0000514Slow saccadic eye movements
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001350Slurred speech
HP:0002015Dysphagia
HP:0002067Bradykinesia
HP:0002072Chorea
HP:0002354Memory impairment
HP:0002483Bulbar signs
HP:0007001Loss of Purkinje cells in the cerebellar vermis
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007377Abnormality of somatosensory evoked potentials
HP:0007928Abnormal flash visual evoked potentials
HP:0025331Upgaze palsy
HP:0025401Staring gaze
HP:0030216Inertia
HP:0040129Abnormal nerve conduction velocity
HP:0100543Cognitive impairment
Периодический (5–29%)17
HP:0000597Ophthalmoparesis
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001265Hyporeflexia
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0002075Dysdiadochokinesis
HP:0002141Gait imbalance
HP:0002174Postural tremor
HP:0002363Abnormal brainstem morphology
HP:0002380Fasciculations
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0006801Hyperactive deep tendon reflexes
HP:0007338Hypermetric saccades
HP:0010831Impaired proprioception
HP:0410011Abnormality of masticatory muscle
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)