acetazolamide-responsive myotonia
ORPHA: 99736
Overview
Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acetazolamide-responsive myotonia, sourced from HPO and Orphanet clinical annotations.
OphthalmoparesisOphthalmoplegiaHypothyroidismHypertoniaGait disturbanceDysphagiaMyotoniaMyalgiaMuscle spasmEMG abnormalitySkeletal muscle hypertrophyChest pain
Classification & Codes
Orphanet Code
ORPHA:99736acetazolamide-responsive myotonia
| Orphanet | ORPHA:99736 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO