Key result
Potassium and spironolactone resolve symptoms in a patient with Hypokalemic Periodic Paralysis Type 2.
Case Report (n=1)
No
This case highlights the importance of genetic testing for SCN4A mutations in patients with recurrent muscle weakness to guide management of Hypokalemic Periodic Paralysis Type 2.
May guide SCN4A HypoPP2 management; leaves open efficacy and generalizability pending controlled trials.
Hypokalemic Periodic Paralysis Type 2 (HOKPP2) is a rare autosomal dominant disorder characterized by recurrent episodes of muscle weakness, paralysis, and hypokalemia. In this case report, we present the clinical details of a 49-year-old female diagnosed with HOKPP2. Genetic testing revealed a heterozygous mutation in the Sodium Voltage-Gated Channel Alpha Subunit 4 (SCN4A) gene, confirming the diagnosis of HOKPP2. Management strategies, including potassium supplementation and lifestyle modifications, were implemented, resulting in a significant decrease in the frequency of symptomatic episodes. This case highlights the importance of considering HOKPP2 in patients with recurrent muscle weakness, particularly those with a familial history of similar symptoms. Furthermore, it underscores the crucial role of genetic testing in guiding patient management and facilitating genetic counseling.
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Hu et al. (2024) conducted a case report in Hypokalemic Periodic Paralysis Type 2 (n=1). Potassium supplementation and spironolactone was evaluated on Symptom resolution and normalization of serum potassium levels. Potassium supplementation and spironolactone treatment resolved symptoms and normalized serum potassium levels in a patient with Hypokalemic Periodic Paralysis Type 2 caused by a SCN4A Val1105Met mutation.
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