Genetic Testing for Metabolic Movement Disorders

Chapter 6 - Genetic Testing for Metabolic Movement Disorders

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

Tom J. de Koning

Edited by

Darius Ebrahimi-Fakhari and

Phillip L. Pearl

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Darius Ebrahimi-Fakhari: Affiliation:
Harvard Medical School
Phillip L. Pearl: Affiliation:
Harvard Medical School

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Summary

Diagnosing inborn errors of metabolism (IEMs) and particularly those complicated by movement disorders means working in a fascinating and overlapping area between neurology, child neurology, metabolic disease, and genetics. At this crossroad between different medical specialties, it is not uncommon that patients enter a long diagnostic journey. Patients can present to a movement disorder specialist, a metabolic specialist, or a clinical geneticist. It is interesting to note that the approach to a diagnosis can be quite different in any of these medical specialties. Neurologists and clinical geneticists often find it difficult to start their diagnostic process in a patient with a suspected IEM with biochemical or enzymatic testing as they are more familiar with molecular testing. On the other hand, specialists for IEMs will often consider biochemical testing their usual starting point to diagnose an IEM.

Type: Chapter
Information: Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
, pp. 84 - 93

DOI: https://doi.org/10.1017/9781108556767 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2020

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