Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis (HyperPP) (pronounced: hi-per-ka-lee-mik pe-ri-o-dik pa-ra-ly-sis) is a rare, inherited neuromuscular disorder characterized by episodes of muscle weakness or paralysis. HyperPP is one of a group of genetic disorders known as channelopathies, which are caused by abnormalities in ion channels.
Etymology
The term "Hyperkalemic periodic paralysis" is derived from the Greek words "hyper" (meaning "over"), "kalemic" (referring to potassium), "periodic" (meaning "recurring at intervals"), and "paralysis" (meaning "loss of muscle function").
Symptoms
The primary symptom of HyperPP is episodic muscle weakness, which can range from mild weakness to total paralysis. These episodes often occur in conjunction with hyperkalemia, or high levels of potassium in the blood. Other symptoms may include myotonia, or muscle stiffness, and cardiac arrhythmias.
Causes
HyperPP is caused by mutations in the SCN4A gene, which provides instructions for making a protein that is critical for normal muscle function. This protein forms a channel that controls the flow of sodium ions into muscle cells. Mutations in the SCN4A gene disrupt the normal function of these channels, leading to the symptoms of HyperPP.
Treatment
Treatment for HyperPP typically involves managing symptoms and preventing episodes of weakness or paralysis. This may include dietary changes to control potassium levels, medications to stabilize the sodium channels, and physical therapy to maintain muscle strength.
See also
References
External links
- Medical encyclopedia article on Hyperkalemic periodic paralysis
- Wikipedia's article - Hyperkalemic periodic paralysis
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