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.
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Subheadings:
Tree Number(s): C05.651.662.500, C10.574.500.545, C10.668.491.606.500, C16.320.400.540
MeSH Unique ID: D009224
Entry Terms:
- Batten Turner Congenital Myopathy
- Batten-Turner Congenital Myopathy
- Myopathy, Congenital
- Myotonia, Generalized
- Generalized Myotonia
- Generalized Myotonias
- Myotonias, Generalized
- Congenital Myotonia
- Myotonia Levior
- Generalized Myotonia of Thomsen
- Thomsen Generalized Myotonia
- Myotonia Congenita, Autosomal Dominant
- Thomsen Disease
- Disease, Thomsen
- Thomsen's Disease
- Disease, Thomsen's
- Thomsens Disease
- Disease, Thomsens
- Becker Generalized Myotonia
- Generalized Myotonia, Becker
- Myotonia, Becker Generalized
- Becker Disease
- Disease, Becker
- Generalized Myotonia of Becker
- Myotonia Congenita, Autosomal Recessive
- Myotonia, Generalized, Becker