Movement Disorders and Inborn Errors of Metabolism in Adults: a Diagnostic Approach

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2008 Jun 20

PMID 18563632

Citations 19

Authors

F Sedel

J-M Saudubray

E Roze

Y Agid

M Vidailhet

Affiliations

Soon will be listed here.

Abstract

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.

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