Conditions / Genetic
spinocerebellar ataxia 17
info ยท Genetic
An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene.
Signs and symptoms
- Dementia
- Ataxia
- Chorea
- Mutism
- Bradykinesia
- Gaze-evoked nystagmus
- Dysmetria
- Dystonia
- Apraxia
- Cerebellar atrophy