Conditions / Genetic
autosomal recessive spinocerebellar ataxia 25
info ยท Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21.
Signs and symptoms
- Truncal ataxia
- Cerebellar hypoplasia
- Delayed ability to walk
- Dysmetria
- Babinski sign
- Dysarthria
- Global developmental delay
- Ataxia
- Horizontal nystagmus
- Brisk reflexes
Also known as: SCAR25