Myotonia Congenita (Thomsen's Disease)

Myotonia Congenita. Thomsen's Disease

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 ...

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),...

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1. Several point mutations found in affected families (I29OM, R317Q, P480L, and Q552R) dramatically shift gating to positive voltages in mutant/WT heterooligomeric channels, and when measurable, even more so in mutant homooligomers. These channels can no longer contribute to the r...

New classification and treatment for myotonic disorders.

Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported. Both DM1 and DM2 have Cl channel abnormality whic...