Movement Disorders in Glucose Transporter Type 1 Deficiency

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

• References

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