loading...| Preferred Name | Potassium-aggravated myotonia | |
| Synonyms |
PAM K-aggravated myotonia K+-aggravated myotonia |
|
| Definitions |
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. |
|
| 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 |
OMIM:608390 UMLS:C2931826 MeSH:C538353 |
|
| 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_557492 |