Myotonia, potassium-aggravated

Preferred Label : Myotonia, potassium-aggravated;

CISMeF acronym : SNEL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myotonia fluctuans; Myotonia permanens; Sodium channel muscle disease; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical;

Included titles and symbols : Laryngospasm, severe neonatal episodic; SNEL;

Description : In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, 603967.0009);

Laboratory abnormalities : Serum creatine kinase may be increased;

Prefixed ID : #608390;

Details

Origin ID

608390;

UMLS CUI

C2931826;

Automatic exact mappings (from CISMeF team)
- Acetazolamide-responsive myotonia [ORDO Disease]
- Myotonia fluctuans [ORDO Disease]
- Myotonia fluctuans (disorder) [SNOMED CT concept]
- myotonic disorders [MeSH Descriptor]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Myotonia permanens [ORDO Disease]
- Myotonia permanens (disorder) [SNOMED CT concept]
- Potassium Aggravated Myotonia [NCIt concept]
- Potassium aggravated myotonia [MeSH concept]
- Potassium aggravated myotonia (disorder) [SNOMED CT concept]
- Potassium-aggravated myotonia [ICD-11 More detail]
- Potassium-aggravated myotonia [ORDO Disease]
- potassium aggravated myotonia [MeSH Supplementary Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 4 [OMIM gene]
HPO term(s)
- Apneic episodes in infancy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Laryngospasm [HPO term]
- Muscle stiffness [HPO term]
- Myalgia [HPO term]
- Myotonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Stridor [HPO term]
Not associated HPO term(s)
- Muscle weakness [HPO term]
ORDO concept(s)
- Acetazolamide-responsive myotonia [ORDO Disease]
- Myotonia fluctuans [ORDO Disease]
- Myotonia permanens [ORDO Disease]
- Potassium-aggravated myotonia [ORDO Disease]
See also inter- (CISMeF)
- Myotonia Fluctuans [NCIt concept]
- Myotonia fluctuans [ICD-11 More detail]
- Myotonia permanens [ICD-11 More detail]
- hyperkalemic periodic paralysis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonia permanens (disorder) [SNOMED CT concept]
- Potassium Aggravated Myotonia [NCIt concept]
- Potassium aggravated myotonia [MeSH concept]
- Potassium aggravated myotonia (disorder) [SNOMED CT concept]
- Potassium-aggravated myotonia [ORDO Disease]
- potassium aggravated myotonia [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Severe Neonatal Episodic Laryngospasm [NCIt concept]
- myotonia fluctuans [MeSH concept]

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