Spinocerebellar ataxia 43

MONDO:0014867

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.

Also known as: MME autosomal dominant cerebellar ataxia, SCA43, autosomal dominant cerebellar ataxia caused by mutation in MME, spinocerebellar ataxia 43, spinocerebellar ataxia 43; SCA43, spinocerebellar ataxia type 43

19 clinical trials for this condition and its sub-types, 0 tagged with Spinocerebellar ataxia 43 itself.

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