Term Name: autosomal recessive spinocerebellar ataxia 8
Synonyms: ARCA1, autosomal recessive ataxia, Beauce type, Autosomal recessive cerebellar ataxia type 1, recessive ataxia of Beauce, SCAR8, SYNE1-related autosomal recessive cerebellar ataxia
Definition: 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.
Ontology: Human Disease [DOID:0111618]   ( DOID:0111618 )

Relationships
is a type of: autosomal recessive cerebellar ataxia