Conditions / Genetic
spinocerebellar ataxia 28
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.
Signs and symptoms
- Cerebellar atrophy
- Gait ataxia
- Dysmetric saccades
- Limb ataxia
- Lower limb hyperreflexia
- Dysarthria
- Ophthalmoparesis
- Ptosis
- Slow saccadic eye movements
- Babinski sign