The large number of physiological processes regulated by voltage-gated sodium channels (Na v) and their role in many diseases make these channels highly interesting as targets for new drugs. Current research in the pharmaceutical industry mainly focuses on identifying sodium channel blockers that may have therapeutic application in widespread pathological conditions, including epilepsy, cardiac...

characterized by muscle stiffness and an inability of the muscle to quickly relax after voluntary contraction. although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. myotonia causes muscle stiffness (a myotonic disorder should be considered in the differential diagnosis of a patient complaining of muscle stiffness) that can...

Our understanding of the pathology of the nondystrophic myotonias and the periodic paralyses has profited immensely from the use of modern electrophysiology (three microelectrode voltage clamp, patch-clamp techniques) and molecular biology (candidate gene approaches in contrast to reverse genetics in other neuromuscular diseases). In the past few years it has become clear that--apart from the n...

the myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. the presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (mc), to severe disability with muscle weakness, cardiac conduction def...

Abstract Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected show stiffness and pain sometimes. The two major types of congenita are known as Thomsen disease Becker disease. These conditions distinguished by the severity their symptoms patterns inheritance. causative factor mutations in CLCN1 gene. Myotonia rarely reported black especial...

Clinical, electrophysiological, and molecular findings are reported for a family with dominant myotonia congenita in which all affected members have experienced long-term fluctuations of the symptom of myotonia. In some patients myotonia is combined with myalgia. The myotonia-causing mutation in this family is in the gene encoding the muscular chloride channel, hCIC-1, predicting the amino acid...

1. The objective of the study was to determine the effect of temperature reduction on the response of rat skeletal muscles to myotonia-inducing agents. 2. A model myotonia was induced in the muscles in vitro, using either the chloride channel blocker anthracene-9-carboxylic acid or chloride-free Krebs solution. This model is similar in its characteristics to the myotonia which occurs in autosom...

Advances in molecular genetics are allowing better phenotype to genotype correlation of the non-dystrophic myotonic disorders. We report a 32-year-old woman, who first noted myotonia that was associated with weakness during her first pregnancy. The work-up disclosed that she had Thomsen's disease which is not known to be associated with weakness. In addition, her myotonia was of the fluctuating...