Аутосомно-рецесивна мозочкова атаксія, зумовлена дефіцитом STUB1
ORPHA:412057· ICD-10 G11.1· Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Визначення(English summary)
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood