Hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis is an autosomal dominant disorder characterized by episodes of flaccid muscle weakness associated with hyperkalemia, caused by mutations in the SCN4A gene. This gene is also associated with epilepsy and is homologous with the muscle sodium channel gene commonly involved in hyperkalemic periodic paralysis. Clinically, hyperkalemic periodic paralysis is characterized by muscle weakness or paralysis and is a congenital disease where the return of potassium within the cell is refrained after exercise, causing hyperkalemia in some but not all cases.From: Hankey's Clinical Neurology [2019], Migraine [2019], Treating potassium disturbances: kill the killers but avoid overkill [2019]

Periodic Paralysis—Hyperkalemic/Hypokalemic

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Published in Charles Theisler, Adjuvant Medical Care, 2023

Charles Theisler

Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Attacks are usually brief, lasting a few minutes to an hour or two, but tend to occur frequently. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Some people with hyperkalemic periodic paralysis have elevated serum levels of potassium (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In most patients, potassium levels do not actually rise above normal. Hyperkalemic refers more to the fact that attacks may be triggered by eating potassium-rich foods or by giving the patient potassium.

Improving genetic diagnostics of skeletal muscle channelopathies

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Published in Expert Review of Molecular Diagnostics, 2020

Vinojini Vivekanandam, Roope Männikkö, Emma Matthews, Michael G. Hanna

Three conditions constitute the periodic paralyses. Hyperkalemic periodic paralysis (HyperPP) is caused by mutations in the SCN4A gene, and like in SCM and PMC, the mutations increase the function of the mutant channel. Patients develop episodic weakness associated with high serum potassium levels. Attacks of paralysis typically last from minutes to hours and can be triggered by cold and rest after exercise [11]. Myotonia can also be present (Figure 1), sometimes clinically and, at times only on electromyography (EMG) [12].

Hyperkalemic periodic paralysis

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Periodic Paralysis—Hyperkalemic/Hypokalemic

Improving genetic diagnostics of skeletal muscle channelopathies