Book contents
- Movement Disorders and Inherited Metabolic Disorders
- Movement Disorders and Inherited Metabolic Disorders
- Copyright page
- Dedication
- Contents
- Contributors
- Preface
- Acknowledgments
- Section I General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Chapter 1 Treatable Metabolic Movement Disorders: The Top 10
- Chapter 2 The Importance of Movement Disorders in Inborn Errors of Metabolism
- Chapter 3 The Importance of Inborn Errors of Metabolism for Movement Disorders
- Chapter 4 Imaging in Metabolic Movement Disorders
- Chapter 5 Biochemical Testing for Metabolic Movement Disorders
- Chapter 6 Genetic Testing for Metabolic Movement Disorders
- Chapter 7 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Ataxia
- Chapter 8 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia
- Chapter 9 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism
- Chapter 10 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Spasticity
- Chapter 11 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus
- Section II A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Section III Conclusions and Future Directions
- Appendix: Video Captions
- Index
- References
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
Book contents
- Movement Disorders and Inherited Metabolic Disorders
- Movement Disorders and Inherited Metabolic Disorders
- Copyright page
- Dedication
- Contents
- Contributors
- Preface
- Acknowledgments
- Section I General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Chapter 1 Treatable Metabolic Movement Disorders: The Top 10
- Chapter 2 The Importance of Movement Disorders in Inborn Errors of Metabolism
- Chapter 3 The Importance of Inborn Errors of Metabolism for Movement Disorders
- Chapter 4 Imaging in Metabolic Movement Disorders
- Chapter 5 Biochemical Testing for Metabolic Movement Disorders
- Chapter 6 Genetic Testing for Metabolic Movement Disorders
- Chapter 7 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Ataxia
- Chapter 8 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia
- Chapter 9 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism
- Chapter 10 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Spasticity
- Chapter 11 A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus
- Section II A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders
- Section III Conclusions and Future Directions
- Appendix: Video Captions
- Index
- References
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 DisordersRecognition, Understanding, Improving Outcomes, pp. 84 - 93Publisher: Cambridge University PressPrint publication year: 2020
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