autosomal recessive spinocerebellar ataxia 33

An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chr

An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13.

Signs and symptoms

• Broad-based gait
• Generalized muscle weakness
• Truncal ataxia
• Delayed ability to walk
• Cerebellar hypoplasia
• Gait ataxia
• Dilated fourth ventricle
• Enlarged cisterna magna
• Intention tremor
• Frequent falls

Also known as: SCAR33