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Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. [2] This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita , is alleviated by exercise.
Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles contract and relax in a coordinated way.
The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita. Channelopathies affecting synaptic function are a type of synaptopathy .
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [ 3 ] [ 4 ] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is ...
WASHINGTON (Reuters) -The Biden administration added more than two dozen Chinese entities to a U.S. restricted trade list on Wednesday, including Zhipu AI, a developer of large language models ...
Sabrina Carpenter brought back old Hollywood glamor on the Grammys red carpet Sunday evening.. Wearing a custom pastel blue JW Anderson gown with feathers and pearls and her signature blond hair ...
Hyperkalemic periodic paralysis causes episodes of extreme muscle weakness, with attacks often beginning in childhood. [1] Depending on the type and severity of the HyperKPP, it can increase or stabilize until the fourth or fifth decade where attacks may cease, decline, or, depending on the type, continue on into old age.
Move over, Wordle, Connections and Mini Crossword—there's a new NYT word game in town! The New York Times' recent game, "Strands," is becoming more and more popular as another daily activity ...