Concept information
Preferred term
Myotonia Congenita
Type
-
Topical Descriptor
Broader concept
Entry terms
- Batten Turner Congenital Myopathy
- Batten-Turner Congenital Myopathy
- Congenital Myotonia
- Generalized Myotonia
- Generalized Myotonias
- Myopathy, Congenital
- Myotonia, Generalized
- Myotonias, Generalized
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.
In other languages
-
Finnish
-
Becker
-
Beckerin myotonia
-
kloridikanavan taudit
-
myotonia congenita
-
myotonia congenita dominans
-
myotonia congenita dominant
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myotonia congenita recessiv (Becker)
-
myotonia congenita recessiva
-
peittyvästi periytyvä synnynnäinen myotonia
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Thomsen
-
Thomsenin myotonia
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vallitsevasti periytyvä synnynnäinen myotonia
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Swedish
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Beckers myotoni
-
Kongenital myotoni
-
Thomsens sjukdom
URI
http://www.yso.fi/onto/mesh/D009224
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