- HYPERKALEMIC PERIODIC PARALYSIS MUTATED GENE SCN4A CHROMOSOME 17q DEFECTIVE CHANNEL SODIUM MODE OF INHERITENCE AUTOSOMAL DOMINANT
- Hyperkalemic Periodic Paralysis • term hyperkalemic is misleading since patients are often normokalemic during attacks. • Onset first decade • M : F 1:1 • Attacks are brief and mild, usually lasting 30 minutes to 4 hours. • Weakness affects proximal muscles, sparing bulbar muscles. • Attacks are precipitated by rest following exercise and fasting.
- In a variant of this disorder, the predominant symptom is myotonia without weakness (potassium-aggravated myotonia). • The symptoms are aggravated by cold, and myotonia makes the muscles stiff and painful. • Clinically apparent myotonia is seen less than 20% of patients, but electrical myotonia may be found in 50-75%.
- Pathophysiology In hyperKPP, Na+ channels fail to inactivate and prolonged openings and depolarization result. Increased extracellular K+ levels worsen the inactivation of Na+ channels.
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