Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

  • Marie Mongin
  • Nicolas Mezouar
  • Pauline Dodet
  • Marie Vidailhet
  • Emmanuel Roze

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.