1. Diseases
  2. Acetazolamide-responsive myotonia

Acetazolamide-responsive myotonia

Disease Export to PDF
Name:
Acetazolamide-responsive myotonia
Description:
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
ORPHAcode:
99736
Synonyms:
ACZ-responsive congenital myotonia
ACZ-responsive myotonia
Acetazolamide-responsive congenital myotonia
Myotonia-painful contractions syndrome
Painful congenital myotonia
Painful myotonia
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SCN4A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14