Which of the following inherited disorders is a Potassium Channelopathy?
Correct Answer: Anderson Tawil syndrome
Description: d. Anderson Tawil syndrome(Ref: Harrison's 19/e p 462)Channelopathies are progressive syndromic cluster of symptoms not localizing to single lesionImportant Channelopathies: (All of these are autosomal dominant & show episodic weakness)FeatureCalcium ChannelSodium ChannelPotassium ChannelHypokalemic PPHypokalemic PPParamyotonia CongenitaAndersen-Tawil syndromeAge of onsetAdolescenceEarly childhoodEarly childhoodEarly childhoodMyotoniaNoYesYesNoFrequency of attacks of weaknessDaily to yearlyMay be 2-3/dayWith cold, usually rareDaily to yearly
Category:
Pediatrics
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