What is Hypokalemic Periodic Paralysis?

Hypokalemic Periodic Paralysis (HypoPP) is a rare genetic disorder characterized by episodes of muscle weakness or paralysis associated with low potassium levels in the blood (hypokalemia).

This condition usually occurs in childhood or adolescence and can range in severity from mild muscle weakness to severe paralysis.

HypoPP is caused by mutations in genes that code for ion channels in muscle cells, such as the CACNA1S gene or SCN4A gene. These ion channels are responsible for regulating electrical activity in muscle cells. Mutations in these genes can prevent potassium ions from being processed properly, leading to the characteristic paralytic episodes.

Weakness can range from mild to severe and can affect the legs, arms, or the entire body. In severe cases, paralysis can last for hours to days. Attacks can be triggered by factors such as strenuous exercise, large meals, stress, or cold. A drop in potassium levels can trigger these episodes.

Diagnosis is based on symptoms, blood tests (to measure potassium levels during an attack), and genetic testing. Treatment usually involves managing potassium levels through diet and drug therapy to prevent or reduce attacks. Potassium supplements may be given during an attack to help relieve symptoms.

Source: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0308076

Author: Prof. Dr. Dirk Devroey - Latest update: 2024-08-31 - Copyright: Clinifacts 2024