Hyperkalemic periodic paralysis

Hyperkalemic periodic paralysis (HyperPP) is a rare, inherited channelopathy characterized by episodes of muscle weakness or paralysis. HyperPP is a type of periodic paralysis, which includes other disorders such as hypokalemic periodic paralysis and thyrotoxic periodic paralysis.

Symptoms

The primary symptom of HyperPP is episodic attacks of muscle weakness or paralysis. These episodes often begin in childhood and can vary in severity. The frequency of attacks can range from daily to yearly, and the duration can vary from minutes to days.

Other symptoms may include myotonia, a condition in which the muscles are unable to quickly relax after voluntary contraction, and paramyotonia, a condition characterized by prolonged muscle stiffness and difficulty relaxing the muscles.

Causes

HyperPP is caused by mutations in the SCN4A gene, which provides instructions for making a protein that plays a crucial role in muscles used for movement (skeletal muscles). The SCN4A gene mutations associated with HyperPP result in the production of an abnormal sodium channel protein, which disrupts the flow of sodium ions into muscle cells and leads to the characteristic features of HyperPP.

Diagnosis

Diagnosis of HyperPP is based on the clinical symptoms, a physical examination, and specialized tests that can help to confirm the diagnosis. These tests may include a serum potassium test, electromyography (EMG), and genetic testing.

Treatment

Treatment for HyperPP is focused on preventing and managing attacks. This may include avoiding triggers, such as certain foods or medications, and taking medications to help prevent or reduce the severity of attacks. In some cases, treatment may also include physical therapy to help improve muscle strength and function.

See also

• Hypokalemic periodic paralysis
• Thyrotoxic periodic paralysis
• Channelopathy
• SCN4A

References

Hyperkalemic periodic paralysis Resources
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