spinocerebellar ataxia 4

info · Genetic

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22.

Signs and symptoms

Hyporeflexia
Babinski sign
Cerebellar atrophy
Dysarthria
Areflexia
Impaired smooth pursuit
Progressive cerebellar ataxia
Distal sensory impairment
Limb dysmetria
Sensory neuropathy

Also known as: SCA4