Potassium-aggravated myotonia

Orpha code: 612OMIM code: 608390

Definition

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.

Disease data
Classification

Clinical group

Synonyms
K+-aggravated myotonia
K+-aggravated myotonia
K-aggravated myotonia
PAM
K-aggravated myotonia
PAM
ORPHA code
612
OMIM code
608390
ICD10 code
G71.1
ICD11 code
-

No additional description.

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