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Title Paroxysmal movement disorders : a practical, concise guide / Kapil D. Sethi, Roberto Erro, Kailash P. Bhatia, editors.
Imprint Cham : Springer, 2021.

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Subject Movement disorders.
Alt Name Sethi, Kapil D.,
Erro, Roberto,
Bhatia, Kailash,
Description 1 online resource
Contents Intro -- Contents -- Contributors -- Chapter 1: Paroxysmal Dyskinesia: Definitions and Clinical Approach -- Definitions -- Clinical Approach -- References -- Chapter 2: The Early History of Paroxysmal Dyskinesias -- Earliest Descriptions of Paroxysmal Dyskinesia Were Reported as Epilepsy -- Earliest Reports That These Types of Conditions Are a Paroxysmal Disorder of Involuntary Movements -- Early Reports of Paroxysmal Hypnogenic Dyskinesia -- Early Reports of Transient Paroxysmal Dystonia/Torticollis in Infancy -- Early Reports of Paroxysmal Ataxias and Tremor -- References
Chapter 3: Paroxysmal Kinesigenic Dyskinesia -- PRRT2-Related PKD -- PKD Associated with Other Genetic Conditions -- Conclusions -- References -- Chapter 4: Paroxysmal Non-kinesigenic Dyskinesia -- Introduction -- Epidemiology -- History -- Genetics -- Clinical Features -- Investigations -- Treatment -- Conclusion -- References -- Chapter 5: Paroxysmal Exercise-Induced Dyskinesia -- Introduction -- SLC2A1 (GLUT1)-Related Paroxysmal Dyskinesia -- GCH1-Related Paroxysmal Dyskinesia -- ECHS1-Related Paroxysmal Dyskinesia -- Pyruvate Dehydrogenase Deficiency -- Early-Onset Parkinson's Disease
Conclusions -- References -- Chapter 6: Acquired Paroxysmal Dyskinesia -- Introduction -- Clinical Features -- Etiology -- Autoimmune/Inflammatory -- Endocrine/Metabolic -- Hypoparathyroidism and Pseudohypoparathyroidism (HP and PHP) -- Hyperthyroidism -- Disorders of Glucose Metabolism -- Autoimmune Disorders -- Faciobrachial Dystonic Seizures (FBDS) -- Vascular -- Trauma -- Spinal Cord Lesions -- Functional (Psychogenic) Paroxysmal Dyskinesia -- Miscellaneous Causes -- Investigations -- Treatment -- References -- Chapter 7: Pathophysiology of Paroxysmal Dyskinesia -- Introduction -- PRRT2
PRRT2 Mice -- PNKD -- PNKD Mice -- GLUT1 -- Glut1 Mice -- Other "Dyskinetic" Genes -- SCN8A -- KCNMA1 -- Conclusions -- References -- Chapter 8: Neurophysiology of Paroxysmal Dyskinesia -- Introduction -- Neurophysiology in the Diagnosis of Paroxysmal Dyskinesia -- Electroencephalography -- Electromyography -- Other Clinical Neurophysiology Studies -- Neurophysiology in the Pathophysiological Study of Paroxysmal Dyskinesia -- Magnetoencephalography -- Transcranial Magnetic Stimulation -- Other Research Neurophysiology Studies -- Conclusion -- References
Chapter 9: Other Paroxysmal Movement Disorders -- Introduction -- ADCY5 Mutations -- ATP1A3 Spectrum Disorders -- SCN8A Mutations -- CACNA1A Mutations -- SLC16A2 Mutations -- References -- Chapter 10: Functional Paroxysmal Movement Disorders -- Introduction -- Phenotypic Characteristics -- Associated Signs -- Diagnosis and Treatment Approach -- References -- Chapter 11: Episodic Ataxias -- Introduction -- EA1 -- EA2 -- EA3-EA8 -- Other Paroxysmal or Episodic Disorders Presenting with Ataxia -- References -- Index
Summary This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
ISBN 9783030537210 (electronic bk.)
3030537218 (electronic bk.)
ISBN/ISSN 10.1007/978-3-030-53721-0
OCLC # 1223058078
Additional Format Original 303053720X 9783030537203 (OCoLC)1159043448

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