spinocerebellar ataxia 43
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.
MONDO:0020380
autosomal dominant cerebellar ataxia
is_a
MME autosomal dominant cerebellar ataxia
exact
SCA43
exact
autosomal dominant cerebellar ataxia caused by mutation in MME
exact
spinocerebellar ataxia 43
exact
spinocerebellar ataxia 43; SCA43
exact
spinocerebellar ataxia type 43
exact