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Myotonia fluctuans

MedGen UID:
156269
•Concept ID:
C0752355
•
Disease or Syndrome
Synonym: Myotonia Fluctuans
SNOMED CT: Myotonia fluctuans (715788001); Exercise induced delayed onset myotonia (715788001); Fluctuating myotonia (715788001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020481
OMIM®: 603967; 608390
Orphanet: ORPHA99734

Definition

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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyotonia fluctuans
Follow this link to review classifications for Myotonia fluctuans in Orphanet.

Professional guidelines

PubMed

New classification and treatment for myotonic disorders.
Kurihara T
Intern Med 2005 Oct;44(10):1027-32. doi: 10.2169/internalmedicine.44.1027. PMID: 16293911

Recent clinical studies

Etiology

Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F, Rüdel R
Curr Opin Neurol 1995 Oct;8(5):402-10. doi: 10.1097/00019052-199510000-00014. PMID: 8542048
Myotonia fluctuans.
Ricker K, Lehmann-Horn F, Moxley RT 3rd
Arch Neurol 1990 Mar;47(3):268-72. doi: 10.1001/archneur.1990.00530030034012. PMID: 2310311

Diagnosis

Unusual causes of stiffness in two hockey players.
Burnham R
Clin J Sport Med 1997 Apr;7(2):137-40. doi: 10.1097/00042752-199704000-00012. PMID: 9113432
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.
Vita GM, Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H, Fletcher JE, Levitt RC
Anesthesiology 1995 May;82(5):1097-103. doi: 10.1097/00000542-199505000-00002. PMID: 7741283
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
Reed UC, Marie SK, Brotto MW, Martinez CA, Marchiori PE, Diament A, Levy JA
Arq Neuropsiquiatr 1995 Mar;53(1):114-7. doi: 10.1590/s0004-282x1995000100017. PMID: 7575194

Therapy

Unusual causes of stiffness in two hockey players.
Burnham R
Clin J Sport Med 1997 Apr;7(2):137-40. doi: 10.1097/00042752-199704000-00012. PMID: 9113432
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.
Vita GM, Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H, Fletcher JE, Levitt RC
Anesthesiology 1995 May;82(5):1097-103. doi: 10.1097/00000542-199505000-00002. PMID: 7741283
Myotonia fluctuans. A third type of muscle sodium channel disease.
Ricker K, Moxley RT 3rd, Heine R, Lehmann-Horn F
Arch Neurol 1994 Nov;51(11):1095-102. doi: 10.1001/archneur.1994.00540230033009. PMID: 7980103

Prognosis

Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
Reed UC, Marie SK, Brotto MW, Martinez CA, Marchiori PE, Diament A, Levy JA
Arq Neuropsiquiatr 1995 Mar;53(1):114-7. doi: 10.1590/s0004-282x1995000100017. PMID: 7575194

Supplemental Content

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    • ClinVar
      Related medical variations
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
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      Related literature resources in PubMed

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