/spinocerebellar ataxia 43

spinocerebellar ataxia 43

Rare Disease

MONDO:0014867

Also Known As

MME autosomal dominant cerebellar ataxiaSCA43autosomal dominant cerebellar ataxia caused by mutation in MMEspinocerebellar ataxia 43spinocerebellar ataxia 43; SCA43spinocerebellar ataxia type 43

Definition

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.