Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies.

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),...

Myotonia levior is a chloride channel disorder.

The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q35. In contrast, dominant myotonias sensitive to potassium are caused by point ...

Myotonia Congenita (Thomsen's Disease)

Myotonia Congenita. Thomsen's Disease

A variety of paramyotonia congenita.

Paramyotonia congenita was first described by Eulenberg (1886). It is a rare, hereditary disorder of muscle in which severe loss of power is induced by degrees of cooling which are insufficient to affect normal muscle. Myotonia also appears on cooling. However, the paralysis produced by cooling distinguishes paramyotonia from Thomsen's disease. The weakness and myotonia can easily be produced u...