autosomal recessive spinocerebellar ataxia 34

An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.

Signs and symptoms

• Mild intellectual disability
• Ataxia
• Cerebellar ataxia associated with quadrupedal gait
• Strabismus
• Dysarthria
• Slurred speech
• Tremor

Also known as: CAMRQ syndrome 3; CAMRQ3; SCAR34; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3