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Neuromuscular hereditary channelopathies

V.L. Ruggieri, C.L. Arberas [REV NEUROL 2002;34:150-156] PMID: 11988910 DOI: https://doi.org/10.33588/rn.3402.2001264

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Volumen 34 | Number 02 | Nº of views of the article 9.480 | Nº of PDF downloads 1.833 | Article publication date 16/01/2002

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ABSTRACT

INTRODUCTION The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged iones from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels. DEVELOPMENT. In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement –non-dystrophic myotonia, paramyotonias and periodic paralysis–, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies.

CONCLUSIONS Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment. KeywordsHereditary channelopathies Ionic channels Myotonia Paramyotonia Periodic paralysis CategoriesNervios periféricos, unión neuromuscular y músculo

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Neuromuscular hereditary channelopathies