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Chapter 8 - A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Hendriekje Eggink ,
Anouk Kuiper ,
Tom J. de Koning ,
Martje E. van Egmond  and
Marina A. J. Tijssen
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Historically, childhood-onset, isolated, generalized, and inherited forms of dystonia (such as DYT1 dystonia) and adult-onset, isolated, focal, mainly idiopathic dystonias have been emphasized. There is, however, growing awareness of neurometabolic disorders being etiological for both childhood-onset and adult-onset dystonia. The dystonia syndromes associated with inborn errors of metabolism (IEMs) usually have an early and (sub-) acute onset, progressive course, and generalized distribution [1]. In general, patients with an IEM do not present with isolated dystonia, but have additional neurological and non-neurological symptoms. This combined or mixed presentation of dystonia and other symptoms may suggest an IEM as the underlying cause. Recognition of dystonia as a clinical feature of a given IEM is essential for diagnostic and targeted treatment strategies, because IEMs include a group of treatable disorders. In addition, symptomatic treatment of dystonia is important as movement disorders negatively impact on the quality of life and daily functioning in patients with an IEM [2].

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Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 111 - 123
Publisher: Cambridge University Press
Print publication year: 2020

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