Spinocerebellar ataxia type 13
ORPHA:98768DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)32
Частый (30–79%)15
HP:0001288Gait disturbance
HP:0000639Nystagmus
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001347Hyperreflexia
HP:0002066Gait ataxia
HP:0002070Limb ataxia
HP:0006886Impaired distal vibration sensation
HP:0009046Difficulty running
HP:0010794Impaired visuospatial constructive cognition
HP:0030187Titubation
Периодический (5–29%)12
HP:0000012Urinary urgency
HP:0000020Urinary incontinence
HP:0000365Hearing impairment
HP:0000473Torticollis
HP:0000543Optic disc pallor
HP:0000648Optic atrophy
HP:0001336Myoclonus
HP:0002015Dysphagia
HP:0002172Postural instability
HP:0002312Clumsiness
HP:0006801Hyperactive deep tendon reflexes
HP:0008003Jerky ocular pursuit movements
Очень редкий (1–4%)5
HP:0001250Seizure
HP:0001999Abnormal facial shape
HP:0002067Bradykinesia
HP:0004322Short stature
HP:0025331Upgaze palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | Worldwide | Case(s) |
| 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)