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 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.
Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. ratpk@mahidol.ac.th
Teeratorn
T
Pulkes
Charungthai
C
Dejthevaporn
Metha
M
Apiwattanakul
Chutima
C
Papsing
Michael G
MG
Hanna
D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D006801:Humans; D020386:Isaacs Syndrome / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D020385:Myokymia / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D013546:Sweating / Q000502:physiology
D003402:Creatine Kinase