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Genetic disorders of neuromuscular ion channels: introduction Genetic disorders of neuromuscular ion channels: introduction
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Conditions where hyperexcitability occurs: dystrophic and non-dystrophic disorders Conditions where hyperexcitability occurs: dystrophic and non-dystrophic disorders
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Myotonic dystrophies Myotonic dystrophies
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Non-dystrophic conditions Non-dystrophic conditions
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Conditions where hypoexcitability occurs: periodic paralysis Conditions where hypoexcitability occurs: periodic paralysis
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Associated channelopathies Associated channelopathies
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Sodium channelopathies Sodium channelopathies
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Calcium channelopathies Calcium channelopathies
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Chloride channelopathies Chloride channelopathies
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Potassium channelopathy Potassium channelopathy
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Role of neurophysiological testing of channelopathies Role of neurophysiological testing of channelopathies
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When there is myotonia When there is myotonia
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Short exercise test at normal temperature and after cooling Short exercise test at normal temperature and after cooling
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Protocol Protocol
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The range of findings in normal subjects and definition of abnormality on exercise testing The range of findings in normal subjects and definition of abnormality on exercise testing
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Patterns of abnormality Patterns of abnormality
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Algorithms to direct genetic testing Algorithms to direct genetic testing
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Other analysis possible to perform in EMG myotonia Other analysis possible to perform in EMG myotonia
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Other conditions with prominent spontaneous activity Other conditions with prominent spontaneous activity
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When periodic paralysis is suspected When periodic paralysis is suspected
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The long exercise test The long exercise test
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References References
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11 Results of the clinical application of SPACE in suspected disorders of the neuromuscular junction
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8 Investigation of channelopathies
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Published:October 2017
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Abstract
The chapter begins with a general description of the clinical findings in conditions where hyperexcitability occurs. These are divided into the dystrophic conditions, such as myotonia dystrophy, and the non-dystrophic conditions, which include myotonia congenita, paramyotonia congenita, and potassium-aggravated myotonia. Conditions where hypoexcitability occurs such as periodic paralysis are next discussed. The associated disorders of sodium, calcium, chloride, and potassium channels are described. Next, the protocols for the neurophysiological tests that are used in myotonia, and the short exercise test either at room temperature or after cooling are introduced. The different patterns seen in these tests are outlined and the algorithms allowing precise targeting of genetic testing explained. The inter-discharge interval calculation that can be used in delineating the causes of myotonia is discussed. Other conditions where prominent spontaneous activity occurs such as Schwartz–Jampel syndrome and Pompe’s disease are described. The chapter concludes with details of the long exercise test used in diagnosis of periodic paralysis.
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