Syndrome of periodic fever, pharyngitis, and aphthous stomatitis.

Periodic paralyses (PPs) are rare inherited channelopathies that manifest as abnormal, often potassium (K)-sensitive, muscle membrane excitability leading to episodic flaccid paralysis. Hypokalaemic (HypoPP) and hyperkalaemic PP and Andersen-Tawil syndrome are genetically heterogeneous. Over the past decade mutations in genes encoding three ion channels, CACN1AS, SCN4A and KCNJ2, have been identified and account for at least 70% of the identified cases of PP and several allelic disorders. No prospective clinical studies have followed sufficiently large cohorts with characterized molecular lesions to draw precise conclusions. We summarize current knowledge of the clinical diagnosis, molecular genetics, genotype-phenotype correlations, pathophysiology and treatment in the PPs. We focus on unresolved issues including (i) Are there additional ion channel defects in cases without defined mutations? (ii) What is the mechanism for depolarization-induced weakness in Hypo PP? and finally (iii) Will detailed electrophysiological studies be able to correctly identify specific channel mutations? Understanding the pathophysiology of the potassium-sensitive PPs ought to reduce genetic complexity, allow subjects to be stratified during future clinical trials and increase the likelihood of observing true clinical effects. Ideally, therapy for the PPs will prevent attacks, avoid permanent weakness and improve quality of life. Moreover, understanding the skeletal muscle channelopathies will hopefully lead to insights into the more common central nervous system channel diseases such as migraine and epilepsy.

/pdf/the-primary-periodic-paralyses-diagnosis-pathogenesis-and-nnbcoiy97k.pdf

The primary periodic paralyses: diagnosis, pathogenesis and treatment

In Europe and the United States of America periodic paralysis would appear to be a rare complication of thyrotoxicosis. In contrast, in Japan this complication has been reported to occur in some 2% of all thyrotoxic patients, consequently 90% of the case reports in the literature have comefrom Japan (Engel, 1961). Before the investigation which is the subject of this communication was made it was apparent to us that periodic paralysis also commonly complicated thyrotoxicosis in the Chinese, yet, strangely, this had not been reported in the literature. Indeed, up to the present there has been but one report of its occurrence in a Chinese in Taiwan (Chen, Hung, and Lin, 1965).

https://www.bmj.com/content/bmj/1/5538/451.full.pdf

Periodic paralysis complicating thyrotoxicosis in Chinese.

Acute hypokalemic paralysis is an uncommon cause of acute weakness. Morbidity and mortality associated with unrecognized disease include respiratory failure and death. Hence, it is imperative for physicians to be knowledgeable about the causes of hypokalemic paralysis, and consider them diagnostically. The hypokalemic paralyses represent a heterogeneous group of disorders with a final common pathway presenting as acute weakness and hypokalemia. Most cases are due to familial hypokalemic paralysis; however, sporadic cases are associated with diverse underlying etiologies including thyrotoxic periodic paralysis, barium poisoning, renal tubular acidosis, primary hyperaldosteronism, licorice ingestion, and gastrointestinal potassium losses. The approach to the patient with hypokalemic paralysis includes a vigorous search for the underlying etiology and potassium replacement therapy. Further therapy depends on the etiology of the hypokalemia. Disposition depends on severity of symptoms, degree of hypokalemia, and chronicity of disease.

Hypokalemic paralyses: a review of the etiologies, pathophysiology, presentation, and therapy.

Adynamia episodica hereditaria

Familial periodic paralysis.

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Familial periodic paralysis.