Tremor and Other Hyperkinetic Movements (Mar 2016)
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
Abstract
Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. Phenomenology Shown: Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. Educational Value: Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable.