Early-onset cerebellar ataxia with retained tendon reflexes
ORPHA:1177DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Фенотипы (HPO)24
Очень частый (80–99%)1
HP:0002073Progressive cerebellar ataxia
Частый (30–79%)10
HP:0000639Nystagmus
HP:0001260Dysarthria
HP:0002015Dysphagia
HP:0003474Somatic sensory dysfunction
HP:0006895Lower limb hypertonia
HP:0007083Hyperactive patellar reflex
HP:0007240Progressive gait ataxia
HP:0007256Abnormal pyramidal sign
HP:0007350Hyperreflexia in upper limbs
HP:0008003Jerky ocular pursuit movements
Периодический (5–29%)9
HP:0001761Pes cavus
HP:0002061Lower limb spasticity
HP:0002650Scoliosis
HP:0003115Abnormal EKG
HP:0003700Generalized amyotrophy
HP:0007340Lower limb muscle weakness
HP:0010794Impaired visuospatial constructive cognition
HP:0100543Cognitive impairment
HP:0200101Decreased/absent ankle reflexes
Исключён (0%)4
HP:0000648Optic atrophy
HP:0000819Diabetes mellitus
HP:0001638Cardiomyopathy
HP:0005775Multiple skeletal anomalies
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.08 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)