Abstract

PERIODIC PARALYSIS: ADVANCES IN PATHOPHYSIOLOGY, DIAGNOSIS, AND MANAGEMENT

*Rupali Pawar, Anand Kamble, Shailesh Pawar, Prem Pokale, Yash Chavhan, Dr. Rahul

Abstract

A wide range of uncommon genetic neuromuscular diseases known as periodic paralysis (PP) are characterized by sporadic muscle weakness linked to changes in serum potassium levels. These conditions are mainly divided into varieties of Andersen-Tawil syndrome (ATS), hypokalemic (HypoPP), hyperkalemic (HyperPP), and normokalemic (NormoPP), each of which is associated with unique clinical and genetic characteristics. The underlying pathophysiology consists of ion channel dysfunctions that impact the excitability of skeletal muscle, which are typically caused by mutations in the genes CACNA1S, SCN4A, and KCNJ2. Temporary muscle fiber depolarization and subsequent periods of weakness are caused by disturbances in potassium homeostasis and channel conductance. Precision-based diagnosis and treatment are now possible thanks to recent molecular discoveries that have expanded our knowledge of genotype–phenotype associations and revealed new pathways underlying periodic paralysis. Clinically, PP manifests as episodic flaccid weakness, which varies in severity and frequency among subtypes and is frequently brought on by stress, high-carb meals, or rest following activity. Clinical history, electrophysiological testing, confirmatory genetic analysis, and serum potassium levels during attacks are all used in diagnostic diagnosis. Acute attack mitigation with potassium correction and long-term avoidance with lifestyle changes and medication, including carbonic anhydrase inhibitors, are the main goals of management. While new molecular medicines promise focused treatment, improvements in genetic and electrophysiological methods have increased the accuracy of diagnostics. Even with advancements, there are still issues with personalized treatment, early diagnosis, and comprehending long-term consequences. Patients with periodic paralysis may benefit from better results if channel dysfunctions and molecular pathomechanisms are further studied.

Keywords: Periodic Paralysis, Andersen-Tawil syndrome, Hypokalemic (HypoPP), Hyperkalemic (HyperPP), Normokalemic (NormoPP).