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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
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.