MeSH Browser

MeSH Heading: Myotonia Congenita
Tree Number(s): C05.651.662.500; C10.574.500.545; C10.668.491.606.500; C16.320.400.540
Unique ID: D009224
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D009224
Scope Note: 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.
Entry Version: MYOTONIA CONGEN
Entry Term(s): Batten Turner Congenital Myopathy; Batten-Turner Congenital Myopathy; Becker Disease; Becker Generalized Myotonia; Congenital Myotonia; Generalized Myotonia of Becker; Generalized Myotonia of Thomsen; Myopathy, Congenital; Myotonia Congenita, Autosomal Dominant; Myotonia Congenita, Autosomal Recessive; Myotonia Levior; Myotonia, Generalized; Myotonia, Generalized, Becker; Thomsen Disease; Thomsen's Disease; Thomsens Disease
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0014373
Scope Note: 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.
Terms: Myotonia Congenita Preferred Term
Term UI T027500
Date01/01/1999
LexicalTag NON
ThesaurusID; Batten Turner Congenital Myopathy
Term UI T769833
Date04/20/2010
LexicalTag EPO
ThesaurusID; Batten-Turner Congenital Myopathy
Term UI T801318
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Myopathy, Congenital
Term UI T801317
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Myotonia, Generalized
Term UI T372045
Date11/03/1999
LexicalTag NON
ThesaurusID; Congenital Myotonia
Term UI T842108
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014)

Concept UI: M0540215
Terms: Generalized Myotonia of Thomsen Preferred Term
Term UI T372041
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Myotonia Congenita, Autosomal Dominant
Term UI T769835
Date04/20/2010
LexicalTag NON
ThesaurusID; Thomsen Disease
Term UI T027501
Date06/15/1984
LexicalTag EPO
ThesaurusID; Thomsen's Disease
Term UI T027503
Date03/30/1974
LexicalTag EPO
ThesaurusID UNK (19XX); Thomsens Disease
Term UI T027502
Date06/15/1984
LexicalTag EPO
ThesaurusID UNK (19XX)

Myotonia Congenita MeSH Descriptor Data 2025