Movement Disorders in Glucose Transporter Type 1 Deficiency

Roser Pons; Darryl C. De Vivo

doi:10.1055/s-0035-1558862

Journal of Pediatric Neurology, Inhaltsverzeichnis

Journal of Pediatric Neurology 2015; 13(04): 168-173
DOI: 10.1055/s-0035-1558862

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Movement Disorders in Glucose Transporter Type 1 Deficiency

Autor*innen

Roser Pons

¹First Department of Pediatrics, University of Athens, Children's Hospital Agia Sophia, Athens, Greece
Darryl C. De Vivo

²Division of Pediatric Neurology, Department of Neurology, Columbia University College of Physician and Surgeons, New York, United States

Abstract

Movement disorders constitute an important and distinctive clinical consequence of glucose transporter type 1 deficiency. Gait disturbances and dyskinesias can be present chronically, and can fluctuate daily with fasting, exercise, and other environmental triggers. Patients manifest an array of paroxysmal disorders often associated with variable motor symptoms, also precipitated by fasting, exercise, and other stressors. Ketogenic diet is the treatment of choice in this condition and can offer substantial improvement of motor symptoms, particularly if instituted immediately after the onset of first clinical symptoms.

Keywords

glucose transporter - dystonia - chorea - tremor - ataxia - dyskinesias

Volltext

Referenzen

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