Spinocerebellar ataxia type 42
ORPHA:458803DiseaseAutosomal dominantAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0001260Dysarthria
HP:0001317Abnormal cerebellum morphology
HP:0002317Unsteady gait
HP:0012759Neurodevelopmental abnormality
Частый (30–79%)12
HP:0000012Urinary urgency
HP:0000716Depression
HP:0001152Saccadic smooth pursuit
HP:0001272Cerebellar atrophy
HP:0002015Dysphagia
HP:0002064Spastic gait
HP:0002066Gait ataxia
HP:0003487Babinski sign
HP:0006855Cerebellar vermis atrophy
HP:0006938Impaired vibration sensation at ankles
HP:0007979Gaze-evoked horizontal nystagmus
HP:0031166Eyelid myokymia
Периодический (5–29%)16
HP:0000020Urinary incontinence
HP:0000486Strabismus
HP:0000571Hypometric saccades
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0000802Impotence
HP:0002321Vertigo
HP:0002322Resting tremor
HP:0002346Head tremor
HP:0002511Alzheimer disease
HP:0002650Scoliosis
HP:0003765Psoriasiform dermatitis
HP:0007351Upper limb postural tremor
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0012708Reduced brain N-acetyl aspartate level by MRS
HP:0030890Hyperintensity of cerebral white matter on MRI
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)