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Chapter 8 - Movement disorders in metabolic diseases in adulthood

from Section II - Movement disorders in systemic disease

Published online by Cambridge University Press:  05 April 2014

By
Miryam Carecchio ,
Susanne A. Schneider  and
Kailash P. Bhatia
Edited by
Werner Poewe  and
Joseph Jankovic
Miryam Carecchio
Affiliation:
Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK; Department of Neurology, Amedeo Avogadro University, Novara, Italy
Susanne A. Schneider
Affiliation:
Department of Neurology, Christian-Albrechts-University, Kiel, Germany
Kailash P. Bhatia
Affiliation:
Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK
Werner Poewe
Affiliation:
Medical University Innsbruck
Joseph Jankovic
Affiliation:
Baylor College of Medicine, Texas
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Summary

Introduction

Inborn errors of metabolism (IEMs) are a wide and variegate, mostly recessively inherited group of multi-systemic diseases that often involve the central nervous system (CNS). Onset of symptoms in childhood or adolescence is generally the rule, but presentation in adulthood is not exceptional and should be taken into consideration in the differential diagnosis even in adult patients presenting with complex movement disorders.

Neurologists may face two scenarios in metabolic disorders of adulthood: late-onset metabolic diseases sometimes manifesting with neurological symptoms, including movement disorders or movement disorders developing later in the context of an earlier-onset and previously diagnosed IEM.

The latter circumstance is becoming increasingly frequent as early diagnosis, improvement of standards of care for patients diagnosed in early childhood, and a multidisciplinary approach in the treatment of these disorders, as well as the availability of new therapies, has considerably prolonged the life expectancy of these patients, so that several long-term neurological manifestations due to CNS involvement, including movement disorders, are now being observed with increasing frequency. Movement disorders in IEMs are clinically heterogeneous and include a wide spectrum of manifestations, from dystonia to ataxia, with different patterns and course; for this reason, considering metabolic diseases in the differential diagnosis is of primary importance in adults, especially when presenting with signs and symptoms of involvement of other organs. Most importantly, such diagnoses should not be missed as some of these disorders (for example, Wilson’s disease) are treatable and some of the movement disorders themselves can also be treated symptomatically.

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Information
Movement Disorders in Neurologic and Systemic Disease , pp. 99 - 114
Publisher: Cambridge University Press
Print publication year: 2014

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  • Movement disorders in metabolic diseases in adulthood
    • By Miryam Carecchio, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK; Department of Neurology, Amedeo Avogadro University, Novara, Italy, Susanne A. Schneider, Department of Neurology, Christian-Albrechts-University, Kiel, Germany, Kailash P. Bhatia, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK
  • Edited by Werner Poewe, Joseph Jankovic, Baylor College of Medicine, Texas
  • Book: Movement Disorders in Neurologic and Systemic Disease
  • Online publication: 05 April 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139175845.009
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  • Movement disorders in metabolic diseases in adulthood
    • By Miryam Carecchio, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK; Department of Neurology, Amedeo Avogadro University, Novara, Italy, Susanne A. Schneider, Department of Neurology, Christian-Albrechts-University, Kiel, Germany, Kailash P. Bhatia, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK
  • Edited by Werner Poewe, Joseph Jankovic, Baylor College of Medicine, Texas
  • Book: Movement Disorders in Neurologic and Systemic Disease
  • Online publication: 05 April 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139175845.009
Available formats
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  • Movement disorders in metabolic diseases in adulthood
    • By Miryam Carecchio, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK; Department of Neurology, Amedeo Avogadro University, Novara, Italy, Susanne A. Schneider, Department of Neurology, Christian-Albrechts-University, Kiel, Germany, Kailash P. Bhatia, Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, London, UK
  • Edited by Werner Poewe, Joseph Jankovic, Baylor College of Medicine, Texas
  • Book: Movement Disorders in Neurologic and Systemic Disease
  • Online publication: 05 April 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139175845.009
Available formats
×