Conditions / Genetic
spinocerebellar ataxia 13
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
Signs and symptoms
- Cerebellar atrophy
- Gait ataxia
- Limb ataxia
- Dysarthria
- Cognitive impairment
- Hypotonia
- Abnormal pyramidal tract morphology
- Progressive cerebellar ataxia
- Motor delay
- Jerky ocular pursuit movements