Disease Directory Acetazolamide-responsive myotonia
Neuromuscular

Acetazolamide-responsive myotonia

Type

Disease

Gene

SCN4A

About Acetazolamide-responsive myotonia

Acetazolamide-responsive myotonia is a rare disease catalogued by Orphanet (ORPHA:99736). It is associated with the SCN4A gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Acetazolamide-responsive myotonia trials.

Search ClinicalTrials.gov for "Acetazolamide-responsive myotonia" or filter by Orphanet code ORPHA:99736 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:99736)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Acetazolamide-responsive myotonia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Acetazolamide-responsive myotonia. Updated daily.