Diseases

Myotonia Congenita

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.

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Broader headings

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MeSH Record

Synonyms

26 entry terms
  • Batten Turner Congenital Myopathy
  • Batten-Turner Congenital Myopathy
  • Congenital Myotonia
  • Myopathy, Congenital
  • Myotonia, Generalized
  • Generalized Myotonia
  • Generalized Myotonias
  • Myotonias, Generalized
  • Becker Disease
  • Becker Generalized Myotonia
  • Generalized Myotonia of Becker
  • Generalized Myotonia of Thomsen
  • Myotonia Congenita, Autosomal Dominant
  • Myotonia Congenita, Autosomal Recessive
  • Myotonia Levior
  • Myotonia, Generalized, Becker
  • Thomsen Disease
  • Thomsen's Disease
  • Thomsens Disease
  • Disease, Becker
  • Disease, Thomsen
  • Disease, Thomsen's
  • Disease, Thomsens
  • Generalized Myotonia, Becker
  • Myotonia, Becker Generalized
  • Thomsen Generalized Myotonia

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

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Tree Numbers

  1. C05w.651w.662.500w
  2. C10w.574w.500.545w
  3. C10w.668w.491w.606.500w
  4. C16w.320w.400.540w

AMA Style

References

  1. National Library of Medicine. Myotonia Congenita. Medical Subject Headings (MeSH). 2026. Unique ID D009224. http://id.nlm.nih.gov/mesh/2026/D009224
  2. Myotonia Congenita. In: Wikipedia. https://en.wikipedia.org/wiki/Myotonia_congenita
  3. Myotonia Congenita. In: Wikidata. https://www.wikidata.org/wiki/Q587420