Premium
Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine
Author(s) -
Ceccarelli M,
Rossi B,
Siciliano G,
Calevro L,
Tarantino E
Publication year - 1992
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1992.tb12271.x
Subject(s) - myotonia congenita , medicine , mexiletine , myotonia , anesthesia , pediatrics , electromyography , disease , vomiting , physical medicine and rehabilitation , myotonic dystrophy
A sporadic event of myotonia congenita in a infant admitted to the Paediatric Clinic for frequent crises of apnoea, cyanosis, vomiting and difficult feeding is reported. EMG analysis was consistent with the dominant variety of myotonia congenita. Mexiletine therapy showed excellent results in reducing myotonic activity. It is worthwhile stressing that early symptoms may go unnoticed or may be misinterpreted and that information on the genetic form of the disease can be obtained also from the EMG analysis through a repetitive stimulation test.