Conditions / Genetic
autosomal recessive spinocerebellar ataxia 26
info · Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.
Signs and symptoms
- Dysphagia
- Impaired distal proprioception
- Dysmetria
- Cerebellar atrophy
- Dysarthria
- Gait ataxia
- Areflexia
- Distal muscle weakness
- Dysdiadochokinesis
- Saccadic smooth pursuit interruptions
Also known as: SCAR26