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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 ...
[1] [2] 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 ...
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 ]
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.
Myotonia congenita: Voltage-dependent chloride channel Neuromyelitis optica: Aquaporin-4 water channel Neuromyotonia: Voltage-gated potassium channel Nonsyndromic deafness: various Paramyotonia congenita (a periodic paralysis) Voltage-gated sodium channel Polymicrogyria (brain malformation) Voltage-gated sodium channel, SCN3A [5] ATP1A3 [6]
After months of speculating that right-hand man James Bender or even ex-husband Ant Anstead would join, The Flip Off premiere revealed that Haack has a team rallying behind her. Here's what we know.
Both employees and employers pay a 6.2% tax on wages up to a "taxable maximum" limit of $176,100 in 2025. That's a total of 12.4% of wages (self-employed workers pay the whole thing).
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 ...