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Myotonia Congenita MeSH Descriptor Data 2021


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
Myotonia Congenita Preferred
Myotonia Levior Narrower
Generalized Myotonia of Thomsen Narrower
Becker Generalized Myotonia Narrower
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