Myotonia is a symptom of various genetic and acquired skeletal muscular disorders and is characterized by hyperexcitability of the sarcolemma. Here, we have performed a comparative proteomic study of the genetic mouse models ADR, MTO and MTO*5J of human congenital myotonia in order to determine myotonia-specific changes in the global protein complement of gastrocnemius muscle. Proteomic analyse...

Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon depolarizing potentials and play a major role in stabilization of resting membrane potentials in ske...

OBJECTIVES A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS Case report. RESULTS The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 2...

Julius thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By november 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the second international congress on Muscle Diseases, in Perth. there, he presented an extensive study of myotonia, recognising a recessively inherited diseas...

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 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...