autosomal recessive spinocerebellar ataxia 8

An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in ho

An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.

Signs and symptoms

• Cerebellar atrophy
• Dysarthria
• Gait ataxia
• Limb ataxia
• Strabismus
• Scoliosis
• Pes cavus
• Dysmetria
• Nystagmus
• Kyphosis

Also known as: ARCA1; Autosomal recessive cerebellar ataxia type 1; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia; autosomal recessive ataxia, Beauce type