Pseudo-myotonia and myokymia.

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...

Experimental facial myokymia in cat

Unilateral tongue myokymia - A rare topodiagnostic sign of different clinical conditions.

Myokymia of the tongue is a very rare clinical condition and is much less common than facial or focal myokymia of the limbs. Radiation-induced delayed nerve damage is a well-known cause of myokymia, but other etiologies i.e. tumor recurrence should be considered as a differential diagnosis. We describe a case series of neurophysiologically proven unilateral tongue myokymia, which arose in two p...

Electrophysiological study on limb myokymia in three women.

Physiological studies on three women with limb myokymia were carried out. The patients had diabetic neuropathy, neuromyotonia, and autonomic polyneuropathy, respectively. The EMG discharge pattern, coincident with myokymia, in a patient with myokymia and neuromyotonia differed from those with myokymia without neuromyotonia. In only the first patient did the electrical stimulation of nerves evok...

Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder.

A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic cho...