spinocerebellar ataxia 36

info · Genetic

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.

Signs and symptoms

Cerebellar atrophy
Nystagmus
Hyperreflexia
Truncal ataxia
Limb ataxia
Tongue atrophy
Dysarthria
Hearing impairment
Tongue fasciculations
Skeletal muscle atrophy