loading...| Preferred Name | Potassium Aggravated Myotonia | |
| Synonyms |
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| Definitions |
A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C122788 |
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| code |
C122788 |
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| definition |
A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
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| label |
Potassium Aggravated Myotonia |
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| Preferred_Name |
Potassium Aggravated Myotonia |
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| prefixIRI |
NCIT:C122788 |
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| prefLabel |
Potassium Aggravated Myotonia |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C2931826 |
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| subClassOf |