Figure 1
Brain Imaging of Patient. Cerebellum and other brain structures appear normal by MRI.
Video segment 1
Features of the Neurological Examination. In the initial segment, the patient has some dystonia of the fingers which increases with repetitive movements. There is slight clumsiness with pronation/supination of the hands. Finger-to-nose testing appears relatively normal apart from a mild endpoint tremor. Speech appears mildly dysarthric. She has a normal range of eye movements with moderate nystagmus on smooth pursuit, especially on left lateral gaze. Her gait is mild-moderately wide-based with dystonic posturing of both feet with plantar flexion and extension of the big toes. She has difficulty performing tandem gait. On examination 1 year later, the spontaneous extension of her big toes is clearly seen, along with a Babinski sign. With arms extended there is dystonic posturing of her fingers. Her tongue is hypertrophic and demonstrates involuntarily movements with abnormal posturing; this is evident when her mouth is open and when she voluntarily moves the tongue from side to side.