Acetazolamide-responsive myotonia

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ORPHA:99736OMIM:608390G71.1
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8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

ACZ-responsive congenital myotoniaACZ-responsive myotoniaAcetazolamide-responsive congenital myotoniaMyotonia-painful contractions syndromePainful congenital myotoniaPainful myotonia

Clinical phenotype terms— hover any for plain English:

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acetazolamide-responsive myotonia.

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Clinical Trials

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No actively recruiting trials found for Acetazolamide-responsive myotonia at this time.

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Specialists

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No specialists are currently listed for Acetazolamide-responsive myotonia.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acetazolamide-responsive myotonia.

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Community

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Latest news about Acetazolamide-responsive myotonia

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Caregiver Resources

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Social Security Disability

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