Details of Disease

General Information of Disease (ID: DIS1CVOM)

Disease Name Acetazolamide-responsive myotonia
Synonyms painful myotonia; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; painful congenital myotonia; myotonia-painful contractions syndrome; ACZ-responsive myotonia
Definition Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Disease Hierarchy
DISRO6ZH: Potassium-aggravated myotonia
DIS1CVOM: Acetazolamide-responsive myotonia
Disease Identifiers
MONDO ID
MONDO_0020483
UMLS CUI
C4275008
MedGen ID
902539
Orphanet ID
99736
SNOMED CT ID
715793003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN4A DT7SZIQ Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN4A OT0MYDHC Supportive Autosomal dominant [1]
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References

1 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3. doi: 10.1212/wnl.44.8.1500.