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Chapter 7 - Metabolic Movement Disorders
from Section 1: - Basic Introduction
- By Alessio Di Fonzo, Alessandro Di Maio
Edited by Erik Ch. Wolters, Universität Zürich, Christian R. Baumann, Universität Zürich
Book:

International Compendium of Movement Disorders

Published online:

07 January 2025

Print publication:

06 February 2025, pp 92-102
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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.