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hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis (HYPP, HyperKPP) is a genetic disorder. It occurs in humans, horses (where it is also known as Impressive syndrome, after an index case in a horse named Impressive, or possibly one of his ancestors), and perhaps other animals. It is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is most commonly associated with horses, but occurs in humans, where it may be called Gamstorp episodic adynamy. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead to uncontrolled shaking followed by paralysis. Onset in humans usually occurs in early childhood, but still occurs with adults.
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 inactivate properly.
Equine hyperkalemic periodic paralysis occurs in 1 in 50 Quarter Horses and can be traced to a single ancestor, a stallion named Impressive.
==Equine HYPP==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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