PATIENTS WITH NONDYSTROPHIC MYOTONIAS TYPIcally have myotonia as an isolated symptom, without muscular wasting, although the patient’s myotonia may be associated with muscle weakness and fatigue or transient attacks of paralysis. Episodes of myotonia may be triggered by cold (paramyotonia congenita), potassium (potassium aggravated myotonia), or exercise (Thompson and Becker myotonia). Most cas...

Hypokalemic periodic paralysis (HypoKPP) is a rare, dominantly inherited disorder of muscle that is characterized by recurrent and prolonged episodes of severe weakness. These episodes are associated with low serum K (often <3.0 mM, normally 3.5–5.5 mM), often triggered by events that lower extracellular [K] such as carbohydrate-rich meals, and result in depolarization-induced loss of excitabil...

A t various chapters in the story of life on earth, certain characters arise that seem to open the door for explosions of new forms and species. From the flowers of angiosperms to the mammary glands of mammals, these so-called evolutionary innovations represent new features that change the playing field of evolution and carry with them a cascade of biodiversity. Where these novelties come from ...

SCD is a model for chronic and diffuse vasculopathy resulting in tissue infarction and ischemia-reperfusion injury. Much attention has been placed on diffuse endothelial disease in SCD. More recently, diastolic heart failure has been recognized as a significant cause of morbidity and mortality in the general population and more specifically in SCD patients. However, there has been a paucity of ...

like myasthenia gravis, congenital myasthenic syndrome (cms) produces weakness and fatigue caused by problems at the neuromuscular junction but while mg is autoimmune, cms is an inherited disease caused by defective genes. genes defective in cms are required for making the ach receptor or other components of the neuromuscular junction. cmss are inherited in an ar, or, less frequently, ad manner...

Voltage-gated sodium (NaV) channels, initially characterized in excitable cells, have been shown to be aberrantly expressed non-excitable cancer tissues and cells from epithelial origins such as breast, lung, prostate, colon, cervix, whereas they are not cognate non-cancer tissues. Their activity was demonstrated promote aggressive invasive potencies of both vitro vivo, their deregulated expres...