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