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Chapter 7 - Metabolic Movement Disorders

from Section 1: - Basic Introduction

Published online by Cambridge University Press:  07 January 2025

By
Alessio Di Fonzo  and
Alessandro Di Maio
Edited by
Erik Ch. Wolters  and
Christian R. Baumann
Erik Ch. Wolters
Affiliation:
Universität Zürich
Christian R. Baumann
Affiliation:
Universität Zürich
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Summary

The etiology of metabolic movement disorders is characterized by marked heterogeneity, including acquired and genetic forms (also known as inborn errors of metabolism). In both cases, metabolic alterations represent a possible pathogenetic mechanism of movement disorders that can present with dystonia, parkinsonism, choreoathetosis, or myoclonus, and can range from hyperacute to chronic forms. These conditions can be classified according to multiple aspects, such as etiology, age, or clinical features’ rapidity of onset. Understanding the underlying pathogenic mechanisms has led to specific treatments for acquired and genetic forms and prompt diagnosis is key to reducing brain damage and improving symptoms. Thus, this chapter offers an overview of these conditions’ main clinical and neuroradiologic features to help clinicians in the diagnostic process.

Keywords

Metabolic movement disordersinborn errors of metabolismNiemann–Pick type CWilson diseasepantotenate-kinase associated neurodegenerationdystoniaparkinsonismataxiamyoclonus
Type
Chapter
Information
International Compendium of Movement Disorders , pp. 92 - 102
Publisher: Cambridge University Press
Print publication year: 2025

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