Tremor and Craniofacial Dystonia Preceding Ataxia in SCA43: Expanding the Phenotypic Spectrum of MME-related Ataxia.

Abstract excerpt

Spinocerebellar ataxia type 43 (SCA43) is a rare autosomal dominant ataxia caused by pathogenic variants in the MME gene and typically presents with late-onset gait ataxia and sensory neuropathy. Hyperkinetic movement disorders are uncommon, and prominent craniofacial orobuccolingual dystonia-dominant presentations have not been documented. We report a 63-year-old woman who developed progressive orobuccolingual...

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