| Myotonia fluctuans (disorder) | | Myotonia fluctuans | | Exercise induced delayed onset myotonia
Fluctuating myotonia
| | A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. | | myotonia fluctuans | | vertraagd optredende myotonie na inspanning
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| | Id | 715788001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | G71.1 | | Rule | TRUE | | Advice | ALWAYS G71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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