Paramyotonia Congenita: Another Form Of Periodic Paralysis

Paramyotonia Congenita: Another Form Of Periodic Paralysis

Paramyotonia Congenita is a form of Periodic Paralysis (PP). I have overlooked this form in my writings and in my book. I now want to describe and explain it, as it is an important form and can accompany all other forms of Periodic Paralysis; Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis and Normokalemic Periodic Paralysis, but usually is seen with Hyperkalemic Periodic Paralysis. It may also occur or manifest as Hyperkalemic Periodic Paralysis and is believed to actually be a form of Hyperkalemic Periodic Paralysis.

Paramyotonia Congenita (PMC), also known as Eulenburg Disease, is a rare, hereditary mineral metabolic disorder, which is also called a channelopathy and it affects the muscles used in movement. Caused by certain triggers, the sodium channels close much too slowly and the sodium, potassium, chloride and water continue to flow into the muscles. The skeletal muscles can become stiff, tight, tense or contracted and weak. PMC is caused by mutations in the SCN4A gene, a voltage-gated sodium channel. There is a 100% penetrance. This means if one has one of the mutations for it, they have a 100% chance of having it. In the same family, some members may have mild forms and others may have more extreme cases. It is actually considered to be a form of Hyperkalemic Periodic Paralysis, however, the symptoms can appear from shifting of potassium into low or high ranges or even if potassium shifts within normal levels.  Symptoms can begin shortly after birth or during childhood or at anytime in early adulthood.

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