Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man

Abstract

A 30-year-old man presented with a two-year history of involuntary movements in the face and mouth. Movements progressively worsened during the previous six months. Born from non-consanguineous parents, he had normal developmental milestones and his past medical history was unremarkable. The patient did not take any medication or had a history of illicit drug use. Family history was positive for unsteady gait of unknown cause. Neurological examination disclosed isolated orofacial dystonia affecting the face, particularly his mouth and eyes, resembling Meige's syndrome. Dystonic closure of eyelids and dystonic contractions of orbicularis oris and platysma were particularly visible while patient was talking. The Montreal Cognitive Assessment score was 30. There were no other movement disorders or other abnormalities in neurological examination. Of note, cerebellar examination as well as gait assessment were normal.

Keywords: Ataxia; Dyskinesias; Dystonia; Spinocerebellar ataxia.