Hyperkalemic periodic paralysis: Difference between revisions
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'''Hyperkalaemic periodic paralysis''' is a [[genetic disorder]] which occurs in both humans and horses. 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. | '''Hyperkalaemic periodic paralysis''' is a [[genetic disorder]] which occurs in both humans and horses. 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 gene| dominant]] with linkage to the | The [[mutation]] which causes this disorder is [[dominant gene| dominant]] with linkage to the [[sodium channel]] expressed in [[muscle]] (called SCN4A). In the presence of high potassium levels, sodium channels fail to activate properly. The mutation causes single [[amino acid]] changes in parts of the channel which important for inactivation. | ||
[[sodium channel]] expressed in [[muscle]] (called SCN4A). In the presence of high potassium levels, sodium channels fail to activate properly. The mutation causes single [[amino acid]] changes in parts of the channel which important for inactivation. | |||
Equine hyperkalaemic periodic paralysis occurs in 1 in 50 [[quarter horse]]s and can be traced to a | Equine hyperkalaemic periodic paralysis occurs in 1 in 50 [[quarter horse]]s and can be traced to a single ancestor (A stallion named Impressive). Episodes in these horses are commonly brought on by [[alfalfa]], which contains high levels of potassium. | ||
single ancestor (A stallion named Impressive). Episodes in these horses are commonly brought on by [[alfalfa]], which contains high levels of potassium. | |||
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Revision as of 08:01, 24 January 2009
Hyperkalaemic periodic paralysis is a genetic disorder which occurs in both humans and horses. 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 with linkage to the sodium channel expressed in muscle (called SCN4A). In the presence of high potassium levels, sodium channels fail to activate properly. The mutation causes single amino acid changes in parts of the channel which important for inactivation.
Equine hyperkalaemic periodic paralysis occurs in 1 in 50 quarter horses and can be traced to a single ancestor (A stallion named Impressive). Episodes in these horses are commonly brought on by alfalfa, which contains high levels of potassium.