"Myotonia Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
- Myotonia Congenita
- Myotonia, Generalized
- Generalized Myotonia
- Generalized Myotonias
- Myotonias, Generalized
- Batten Turner Congenital Myopathy
Becker Generalized Myotonia
- Becker Generalized Myotonia
- Generalized Myotonia, Becker
- Myotonia, Becker Generalized
- Generalized Myotonia of Becker
- Myotonia, Generalized, Becker
- Becker Disease
- Disease, Becker
Generalized Myotonia of Thomsen
- Generalized Myotonia of Thomsen
- Thomsen Generalized Myotonia
- Thomsens Disease
- Disease, Thomsens
- Thomsen's Disease
- Disease, Thomsen's
- Myotonia Congenita, Autosomal Dominant
- Thomsen Disease
- Disease, Thomsen
Below are MeSH descriptors whose meaning is more general than "Myotonia Congenita".
Below are MeSH descriptors whose meaning is more specific than "Myotonia Congenita".
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Below are the most recent publications written about "Myotonia Congenita" by people in Profiles.