Familial hypokalemic periodic paralysis

Familial hypokalemic periodic paralysis is a rare, autosomal dominant neuromuscular channelopathy primarily affecting skeletal muscle, typically manifesting during late childhood or adolescence It is predominantly caused by pathogenic variants in genes encoding voltage-gated calcium or sodium channels, such as CACNA1S and SCN4A, which disrupt sarcolemmal membrane excitability Clinically, the disorder is characterized by reversible, episodic attacks of flaccid muscle weakness or paralysis—most no...

Familial hypokalemic periodic paralysis is a rare, autosomal dominant neuromuscular channelopathy primarily affecting skeletal muscle, typically manifesting during late childhood or adolescence

Familial hypokalemic periodic paralysis is a rare, autosomal dominant neuromuscular channelopathy primarily affecting skeletal muscle, typically manifesting during late childhood or adolescence It is predominantly caused by pathogenic variants in genes encoding voltage-gated calcium or sodium channels, such as CACNA1S and SCN4A, which disrupt sarcolemmal membrane excitability

Pathophysiologically, aberrant ion conductance leads to paradoxical muscle cell depolarization and an abnormal intracellular shift of potassium Clinically, the disorder is characterized by reversible, episodic attacks of flaccid muscle weakness or paralysis—most notably involving the proximal limbs—concomitant with serum hypokalemia, frequently provoked by rest following strenuous exercise, carbohydrate-rich meals, or physiological stress

Clinically, the disorder is characterized by reversible, episodic attacks of flaccid muscle weakness or paralysis—most notably involving the proximal limbs—concomitant with serum hypokalemia, frequently provoked by rest following strenuous exercise, carbohydrate-rich meals, or physiological stress