HOKPP Case Studies

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Hypokalemic periodic paralysis also known as HOKPP or HypoPP is a condition that causes episodes of muscle paralysis associated with a fall in blood potassium levels, which in technical terms is hypokalemia. Episodes typically involve a temporary inability to move muscles in the arms and legs due to the lack of ions that should be received by the muscles. The first attack usually occurs in childhood or adolescence and can last for hours or days. The frequency of attacks varies among affected people. The frequency is usually highest between the ages of 15 and 35 and then decreases with age.
HOKPP can be caused by mutations in three genes which are CACNA1S, SCN4A, or KCNJ18, which I will explain their cytogenetic location. The CACNA1S gene provides …show more content…

Mutations that cause HOKPP affect the usual structure or function of ion channels, impairing their ability to regulate the flow of ions into muscle cells. This then reduces the ability of skeletal muscles to contract, causing the weakness and paralysis associated with HOKPP.
Signs and symptoms of HOKPP are characterized by attacks of muscle weakness or loss of muscle movement, otherwise known as paralysis that comes and goes. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles of the eyes and those that help you breathe and swallow can also be affected. While muscle strength is usually regained between attacks, repeated episodes can lead to persistent muscle weakness later in life.
Some symptoms are of course muscle weakness, there can be the loss of muscle movement and the attacks of the individual will vary, some people have attacks every day, while others have them once a year. Attacks usually last at least a few hours, to sometimes days. Attacks can occur without warning or they may be triggered by factors such as meals rich in carbohydrate, rest after exercise and prolonged immobility. Attacks usually begin in childhood or adolescence, and the frequency of attacks varies with

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