autosomal recessive spinocerebellar ataxia 28

An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chro

An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33.

Signs and symptoms

• Dysarthria
• Motor delay
• Cerebellar vermis hypoplasia
• Abnormal pyramidal sign
• Gaze-evoked horizontal nystagmus
• Mild intellectual disability
• Short stature
• Gait ataxia
• Poor fine motor coordination
• Impaired smooth pursuit

Also known as: SCAR28