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Positive muscle phenomena—diagnosis, pathogenesis and associated disorders

Nature Reviews Neurology volume 8, pages 97–107 (2012)Cite this article

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Abstract

Positive muscle phenomena arise owing to various forms of spontaneous muscle hyperactivity originating in motor neurons or in the muscle itself. Although they are common in a wide range of neurological and non-neurological diseases, clinical and scientific data on these phenomena are limited, and their presence is sometimes overlooked. This gap in our knowledge hampers effective diagnosis and treatment. In this article, we review the clinical characteristics and approach to diagnosis of the various positive muscle phenomena, and discuss their genetic underpinnings and pathophysiological mechanisms. Finally, we outline an algorithm to discriminate between the different positive muscle phenomena.

Key Points

  • Positive muscle phenomena arise from spontaneous muscle hyperactivity

  • The phenomena can originate in the upper motor neuron, the lower motor neuron, or in skeletal muscle

  • The recognition of positive muscle phenomena involves electrophysiological measurements, and observations of spontaneous and evoked phenomena

  • The genetic and cellular underpinnings of these muscle disorders are becoming increasingly understood, thereby aiding diagnosis and treatment

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Figure 1: Characteristic patterns of electrical activity in skeletal muscle, as measured on electromyography.
Figure 2: Classification of myotonias.
Figure 3: Clinical algorithm to differentiate the myotonias.
Figure 4: Clinical algorithm to aid the diagnosis of positive muscle phenomena.

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Authors and Affiliations

  1. Department of Neurology, Center for Neuroscience, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, PO Box 9101, Nijmegen, 6500 HB, The Netherlands

    Hans G. Kortman & Gea Drost

  2. Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands

    Jan H. Veldink

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  1. Hans G. Kortman
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  3. Gea Drost
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H. G. Kortman and G. Drost contributed to researching data for and writing of the article. All authors made substantial contributions to discussion of the article content, and to review and/or editing of the manuscript before submission.

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Correspondence to Gea Drost.

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Peripheral nerve hyperexcitability (DOC 52 kb)

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Kortman, H., Veldink, J. & Drost, G. Positive muscle phenomena—diagnosis, pathogenesis and associated disorders. Nat Rev Neurol 8, 97–107 (2012). https://doi.org/10.1038/nrneurol.2011.226

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