Heart Disease as the Presenting Feature in Myotonia Atrophica.

The Heart in Myotonia Atrophica.

The heart in myotonia atrophica.

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...

The relief of myotonia by the use of a potassium-binding resin.

The phenomenon of myotonia comprises a lingering relaxation of muscle after contraction, and a slow tonic response to stimuli of an electrical or mechanical nature. The condition may be ameliorated or even extinguished by repeated effort. Although well known and the commonest form of hereditary muscular disorder seen in young adults, it is, nevertheless, a rare condition. Three distinct forms o...

The Eye in Dystrophia Myotonica: with a Report on Electromyography of the Extra-ocular Muscles.

THOMSEN'S disease (myotonia congenita), dystrophia myotonica (myotonia atrophica), and paramyotonia are characterized by the presence of myotonia. As an isolated symptom, myotonia had already been described by Benedikt (1874) and Leyden (1874) when Thomsen (1876) published his paper (following the refusal by the Prussian army medical officers of a certificate of the disease in one of his sons),...