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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Sub-types

Acetazolamide-responsive myotonia (0) Myotonia fluctuans (0) Myotonia permanens (0)

Broader categories

Disease (717) Nervous system disorder (243) Musculoskeletal system disorder (214) Hereditary disease (188) Neuromuscular disease (110) Muscle tissue disorder (56) Syndromic disease (25) Human disease (15) Myotonic syndrome (11) Skeletal muscle disorder (10)

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