You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Acetazolamide-responsive myotonia, look for clinical trials, and connect with others living with it — all in one place.
Open the full Acetazolamide-responsive myotonia hub →Acetazolamide-responsive myotonia is a rare condition. Also known as ACZ-responsive congenital myotonia, ACZ-responsive myotonia, Acetazolamide-responsive congenital myotonia, Myotonia-painful contractions syndrome, Painful congenital myotonia, Painful myotonia. Tomeko brings together the specialists, research, clinical trials, treatments and community for Acetazolamide-responsive myotonia so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:99736 · OMIM 608390 · ICD-10 G71.1 · GARD 0016906
Start by learning the basics from an authoritative source, find a specialist or center that sees Acetazolamide-responsive myotonia, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Acetazolamide-responsive myotonia, filtered to your area.
Tomeko shows live, recruiting studies for Acetazolamide-responsive myotonia from ClinicalTrials.gov on the hub.