Hyperkalemic periodic paralysis

Hyperkalemic Periodic Paralysis

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Hyperkalemic periodic paralysis

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Description:
Hyperkalemic periodic paralysis (HYPP, HyperKPP) is a genetic disorder which occurs in both humans and horses, where it is also known as Impressive Syndrome. It is an inherited autosomal dominant disorder which affects sodium channel in muscle cells and the ability to regulate potassium levels in the blood. It is most commonly associated with horses, but also occurs in humans, where it may be called Gamstorp episodic adynamy. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium or cold, can lead to uncontrolled shaking followed by paralysis. Onset in humans usually occurs in the twenties.

The mutation which causes this disorder is dominant on SCN4A with linkage to the sodium channel expressed in muscle. The mutation causes single amino acid changes in parts of the channel which are important for inactivation. In the presence of high potassium levels, including those induced by diet, sodium channels fail to activate properly.

Equine hyperkalaemic periodic paralysis occurs in 1 in 50 quarter horses and can be traced to a single ancestor, a stallion named Impressive.

Equine HYPP

Symptoms and presentation

This inherited disease is characterized by violent muscle twitching and substantial muscle weakness or paralysis among affected horses. HYPP is a dominant genetic disorder; therefore heterozygotes bred to genotypically normal horses have a statistic probability of producing clinically affected offspring 50% of the time.

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