Potassium-aggravated myotonia

MONDO:0018959

Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.

Also known as: K+-aggravated myotonia, K-aggravated myotonia, PAM, Potassium aggravated myotonia, myotonia congenita, atypical, acetazolamide-responsive, Laryngospasm, Severe Neonatal Episodic, MYOTONIA, POTASSIUM-AGGRAVATED, Myotonia Congenita, Acetazolamide-Responsive

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