Acetazolamide-responsive myotonia
Engelsk navn: Acetazolamide-responsive myotonia
Engelske synonym: ACZ-responsive congenital myotonia,ACZ-responsive myotonia,Acetazolamide-responsive congenital myotonia,Myotonia-painful contractions syndrome,Painful congenital myotonia,Painful myotonia
Definisjon
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Fra Orphanet
ORPHA: 99736
Klassifiseringsnivå: Disorder
ICD-10: G71.1
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
