Paroxysmal neuromyotonia: A new sporadic channelopathy

Pulkes, Teeratorn; Dejthevaporn, Charungthai; Apiwattanakul, Metha; Papsing, Chutima; Hanna, Michael G.

doi:10.1016/j.nmd.2012.01.004

« Previous Next »Neuromuscular Disorders
Volume 22, Issue 6 , Pages 479-482, June 2012

Paroxysmal neuromyotonia: A new sporadic channelopathy

Teeratorn Pulkes
- Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
- Corresponding author. Address: Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 270 Rama 6 Road, Bangkok 10400, Thailand. Tel./fax: +66 22011386.
Charungthai Dejthevaporn
- Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Metha Apiwattanakul
- Department of Neurology, Prasat Neurological Institute, Bangkok, Thailand
Chutima Papsing
- Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Michael G. Hanna
- MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK

Received 27 April 2011; received in revised form 20 December 2011; accepted 9 January 2012. published online 06 February 2012.

Abstract

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.

Keywords: Neuromyotonia, Channelopathies, Acetazolamide