Paroxysmal neuromyotonia: A new sporadic channelopathy
Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful mus...
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th-mahidol.147952018-06-11T12:21:12Z Paroxysmal neuromyotonia: A new sporadic channelopathy Teeratorn Pulkes Charungthai Dejthevaporn Metha Apiwattanakul Chutima Papsing Michael G. Hanna Mahidol University Prasat Neurological Institute UCL Institute of Neurology Medicine Neuroscience Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation. Serum voltage-gated potassium channel antibody was also negative. He was successfully treated with acetazolamide and carbamazepine. This appears to be a new neuromuscular disease, "paroxysmal neuromyotonia", the etiology of which is still unknown. © 2012 Elsevier B.V. 2018-06-11T05:10:37Z 2018-06-11T05:10:37Z 2012-06-01 Article Neuromuscular Disorders. Vol.22, No.6 (2012), 479-482 10.1016/j.nmd.2012.01.004 18732364 09608966 2-s2.0-84860570471 https://repository.li.mahidol.ac.th/handle/123456789/14795 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84860570471&origin=inward |
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Medicine Neuroscience Teeratorn Pulkes Charungthai Dejthevaporn Metha Apiwattanakul Chutima Papsing Michael G. Hanna Paroxysmal neuromyotonia: A new sporadic channelopathy |
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Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation. Serum voltage-gated potassium channel antibody was also negative. He was successfully treated with acetazolamide and carbamazepine. This appears to be a new neuromuscular disease, "paroxysmal neuromyotonia", the etiology of which is still unknown. © 2012 Elsevier B.V. |
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Mahidol University |
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Mahidol University Teeratorn Pulkes Charungthai Dejthevaporn Metha Apiwattanakul Chutima Papsing Michael G. Hanna |
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Article |
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Teeratorn Pulkes Charungthai Dejthevaporn Metha Apiwattanakul Chutima Papsing Michael G. Hanna |
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Teeratorn Pulkes |
title |
Paroxysmal neuromyotonia: A new sporadic channelopathy |
title_short |
Paroxysmal neuromyotonia: A new sporadic channelopathy |
title_full |
Paroxysmal neuromyotonia: A new sporadic channelopathy |
title_fullStr |
Paroxysmal neuromyotonia: A new sporadic channelopathy |
title_full_unstemmed |
Paroxysmal neuromyotonia: A new sporadic channelopathy |
title_sort |
paroxysmal neuromyotonia: a new sporadic channelopathy |
publishDate |
2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/14795 |
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1763490954971447296 |