Acetazolamide-responsive myotonia

What is Acetazolamide-responsive myotonia?

A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).

Other condition names

  • ACZ-responsive congenital myotonia
  • ACZ-responsive myotonia
  • Acetazolamide-responsive congenital myotonia
  • Myotonia-painful contractions syndrome
  • Painful congenital myotonia
  • Painful myotonia

Inheritance type

Autosomal dominant

Age of Onset

  • Childhood
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