Recurrent Lower Extremity Weakness in a Healthy Adolescent Male: A Diagnostic Journey to Hypokalemic Periodic Paralysis Due to SCN4A Mutation (P5-6.020)

Hypokalemic periodic paralysis (HPP) is a rare genetic disorder characterized by episodic muscle weakness associated with low potassium levels. This condition is often linked to mutations in genes encoding ion channels, such as SCN4A, which affect sodium channel function in muscle cells. Early recognition and genetic testing are essential for proper diagnosis and management, particularly in young patients. This report discusses a case of a 14-year-old male with recurring episodes of muscle weakness, exploring the diagnostic journey and the importance of genetic testing.