potassium-aggravated myotonia
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.
MONDO:0016120
myotonic syndrome
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
MONDO:0800468
SCN4A-related channelopathy
is_a
K+-aggravated myotonia
exact
K-aggravated myotonia
exact
PAM
exact
Potassium aggravated myotonia
exact
myotonia congenita, atypical, acetazolamide-responsive
exact