Autosomal recessive ataxia, Beauce type
ORPHA:88644DiseaseAutosomal recessiveAdult, Childhood, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)4
HP:0001251Ataxia
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0002493Upper motor neuron dysfunction
Частый (30–79%)10
HP:0000736Short attention span
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001315Reduced tendon reflexes
HP:0001347Hyperreflexia
HP:0002061Lower limb spasticity
HP:0002380Fasciculations
HP:0003202Skeletal muscle atrophy
HP:0003487Babinski sign
HP:0007340Lower limb muscle weakness
Периодический (5–29%)21
HP:0000020Urinary incontinence
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000570Abnormal saccadic eye movements
HP:0000597Ophthalmoparesis
HP:0001249Intellectual disability
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001319Neonatal hypotonia
HP:0001558Decreased fetal movement
HP:0001761Pes cavus
HP:0002312Clumsiness
HP:0002500Abnormal cerebral white matter morphology
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003445EMG: neuropathic changes
HP:0007267Chronic axonal neuropathy
HP:0007772Impaired smooth pursuit
HP:0011448Ankle clonus
HP:0025402Square-wave jerks
HP:0031960Arm dystonia
Очень редкий (1–4%)6
HP:0001271Polyneuropathy
HP:0002086Abnormality of the respiratory system
HP:0002495Impaired vibratory sensation
HP:0003390Sensory axonal neuropathy
HP:0007178Motor polyneuropathy
HP:0007366Atrophy/Degeneration affecting the brainstem
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 57 | 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)