Аутосомно-рецесивний синдром мозочкової атаксії-психомоторної затримки
ORPHA:284271· ICD-10 G11.1· Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Визначення(English summary)
A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood