Impact of genetic mutations in hypokalemic periodic paralysis: Diagnosis and clinical management

Abstract

Neuromuscular diseases encompass a variety of disorders affecting muscular and nervous function, with numerous genetic conditions manifesting in diverse clinical forms. Among these disorders, periodic paralyses stand out due to their complexity and rarity, representing a significant challenge for diagnosis and management. This study focuses on hypokalemic periodic paralysis, a rare and complex condition, aiming to identify and characterize the associated genetic mutations to improve the diagnosis and treatment of the disease.Mixed methods were employed, including genetic analysis using next-generation sequencing and clinical evaluation through interviews, medical record reviews, and specific questionnaires. The results revealed that mutations in the CACNA1S and SCN4A genes play a crucial role in the paralysis, allowing for a more precise approach to diagnosis and treatment. Additionally, new clinical protocols based on these findings were designed and implemented, including personalized recommendations and training for medical staff. The study highlights the importance of integrating genetic analysis into the diagnosis and management of the condition. The implementation of these protocols has significantly improved patients' quality of life and efficiency in medical resource management. Furthermore, the success of these strategies emphasizes the need for continued education and updates for medical personnel and opens new possibilities for applying these approaches to other genetic neuromuscular diseases