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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. PC is also distinguished as it can ...
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 .
[2] [6] [7] Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. This phenomenon is known as the "warm-up" reflex [8] and is not to be confused with warming up before exercise, though they may appear similar ...
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.
The Na v 1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis , hyperkalemic periodic paralysis , paramyotonia congenita , and potassium-aggravated myotonia .
The Centers for Disease Control and Prevention (CDC) warns that those who consume sugary drinks like soda are more likely to experience health issues like obesity, type 2 diabetes, heart disease ...
Some Walmart shareholders say the retailer hasn't offered a good business case for canceling its diversity, equity and inclusion programs.
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder . The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles ( myotonia ) and rigidity . [ 1 ]