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Orofacial Dyskinesia

This video shows involuntary movements of the mouth and tongue with involuntary vocalizations in a 30-year-old man with an unsteady gait for 2 months. Accompanying creatine kinase elevation, acanthocytosis on the blood smear, axonal peripheral neuropathy and neurogenic muscle damage on electromyography, and caudate head atrophy on magnetic resonance imaging suggested neuroacanthocytosis as the cause of his clinical signs. Neuroacanthocytosis is a group of heterogeneous disorders affecting the basal ganglia leading to movement disorder. Whole-exome sequencing revealed a point mutation in the gene for chorein causing low or absent chorein levels and chorea, which this patient did not yet manifest at presentation. He was diagnosed as having chorea-acanthocytosis, a form of neuroacanthocytosis.

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