Cayman type cerebellar ataxia

An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retina

An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.

Signs and symptoms

• Cerebellar atrophy
• Gait ataxia
• Ataxia
• Hypomimic face
• Pes planus
• Strabismus
• Skeletal muscle atrophy
• Bradykinesia
• Broad-based gait
• Truncal ataxia

Also known as: Cayman cerebellar ataxia