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KMID : 1035220160080010034
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Korean Journal of Neuromuscular Disorders
2016 Volume.8 No. 1 p.34 ~ p.38
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Clinical Evaluation of Channelopathies
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Park Jin-Sung
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Abstract
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Channelopathies are caused by genetically altered excitability of the sarcolemma that manifests in the clinical state of myotonia or paralysis. In accordance to these symptoms they can be classified into non-dystrophic myotonia and periodic paralysis. The evaluation of this heterogeneous group of disease can be made by clinical history, neurological examination, laboratory tests, electrophysiological studies and genetic analysis. Currently SCN4A, CACNA1S, CLCN1 and KCJN2 are most common mutations that cause muscle channelopathies. The phenotype-genotype correlation and evaluation has become an important issue and significant progress in understanding the patho-mechanism has been observed. However clinical and genetic overlaps exist between the disease and further studies are required to elucidate on the remaining unrevealed mechanism of channelopathies. The aim of this review is to provide an overview of different clinical symptoms observed in muscle channelopathies and an appropriate methodology in its genetic evaluation.
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KEYWORD
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Non-dystrophic myotonia, Periodic paralysis, Genetics
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