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Acetazolamide-responsive myotonia

MONDO:0020483

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

Also known as: ACZ-responsive congenital myotonia, ACZ-responsive myotonia, Acetazolamide-responsive congenital myotonia, myotonia-painful contractions syndrome, painful congenital myotonia, painful myotonia

34 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscle tissue disorder (53) Syndromic disease (24) Human disease (14) Myotonic syndrome (10) Skeletal muscle disorder (8)

Trials to join now! 15 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC