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loading...| Preferred Name |
Potassium-aggravated myotonia |
| ID |
http://www.orpha.net/ORDO/Orphanet_612 |
| alternative_term |
PAM K+-aggravated myotonia K-aggravated myotonia |
| definition |
A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 |
| has_age_of_onset |
Childhood |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
UMLS:C2931826 MeSH:C538353 OMIM:608390 |
| label |
Potassium-aggravated myotonia |
| notation |
Clinical group ORPHA:612 |
| prefixIRI |
ORDO:Orphanet_612 |
| prefLabel |
Potassium-aggravated myotonia |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_206970 |
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