/acetazolamide-responsive myotonia

acetazolamide-responsive myotonia

Rare Disease

MONDO:0020483

Also Known As

ACZ-responsive congenital myotoniaACZ-responsive myotoniaAcetazolamide-responsive congenital myotoniamyotonia-painful contractions syndromepainful congenital myotoniapainful myotonia

Definition

Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).

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External Resources

Orphanet

Orphanet:99736 ↗

GARD

GARD:16906 ↗

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