SNP Shot: Genomic Insights

Hyperkalemic periodic paralysis is a disorder characterized by episodes of significant muscle weakness or paralysis that typically start in infancy or early childhood. These episodes most commonly affect the muscles of the arms and legs, causing temporary immobility. The frequency of these episodes often increases until mid-adulthood, after which they tend to decrease. Triggers for attacks can include: rest following exercise, potassium-rich foods like bananas and potatoes, stress, tiredness, alcohol consumption, pregnancy, exposure to extreme temperatures, certain drugs, and periods of fasting. Between attacks, muscle strength usually recovers; however, many individuals experience mild stiffness (myotonia), especially in facial and hand muscles.

During attacks, many individuals with hyperkalemic periodic paralysis exhibit elevated blood potassium levels (hyperkalemia). This hyperkalemia occurs when weakened or paralyzed muscles release potassium ions into the bloodstream. However, some individuals experience attacks with normal blood potassium levels (normokalemia). Consuming potassium can still provoke attacks in susceptible individuals, even without an increase in blood potassium levels.

Inheritance:

The inheritance pattern of this condition is autosomal dominant. This means that having only one copy of the mutated gene in each cell is enough to cause the disorder.