loading...| Preferred Name | potassium-aggravated myotonia | |
| Synonyms |
Myotonia Permanens Sodium Channel Muscle Disease MYOTONIA, POTASSIUM-AGGRAVATED Laryngospasm, Severe Neonatal Episodic Myotonia Congenita, Acetazolamide-Responsive Myotonia Fluctuans Myotonia Congenita, Atypical K-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive K+-aggravated myotonia Potassium aggravated myotonia PAM |
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| Definitions |
Potassium-aggravated myotonia (PAM) is 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018959 |
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| altLabel |
Myotonia Permanens Sodium Channel Muscle Disease MYOTONIA, POTASSIUM-AGGRAVATED Laryngospasm, Severe Neonatal Episodic Myotonia Congenita, Acetazolamide-Responsive Myotonia Fluctuans Myotonia Congenita, Atypical K-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive K+-aggravated myotonia Potassium aggravated myotonia PAM |
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| definition |
Potassium-aggravated myotonia (PAM) is 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. |
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| has_exact_synonym |
K-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive K+-aggravated myotonia Potassium aggravated myotonia PAM |
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| has_related_synonym |
Myotonia Permanens Sodium Channel Muscle Disease MYOTONIA, POTASSIUM-AGGRAVATED Laryngospasm, Severe Neonatal Episodic Myotonia Congenita, Acetazolamide-Responsive Myotonia Fluctuans Myotonia Congenita, Atypical |
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| IAO_0000233 | ||
| label |
potassium-aggravated myotonia |
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| prefixIRI |
MONDO:0018959 |
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| prefLabel |
potassium-aggravated myotonia |
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| textual definition |
Potassium-aggravated myotonia (PAM) is 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. |
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| subClassOf |