Conditions / Genetic
spinocerebellar ataxia 40
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene.
Signs and symptoms
- Scanning speech
- Pontocerebellar atrophy
- Dysmetria
- Broad-based gait
- Gait ataxia
- Dysarthria
- Dysdiadochokinesis
- Ataxia
- Intention tremor
- Ankle clonus