Myotonia Congenita
Synonyms
Batten Turner Congenital Myopathy
Batten-Turner Congenital Myopathy
Becker Disease
Becker Generalized Myotonia
Congenital Myotonia
Disease, Becker
Disease, Thomsen
Disease, Thomsen's
Disease, Thomsens
Generalized Myotonia
Generalized Myotonia of Becker
Generalized Myotonia of Thomsen
Generalized Myotonia, Becker
Generalized Myotonias
Myopathy, Congenital
Myotonia Congenita, Autosomal Dominant
Myotonia Congenita, Autosomal Recessive
Myotonia Levior
Myotonia, Becker Generalized
Myotonia, Generalized
Myotonia, Generalized, Becker
Myotonias, Generalized
Thomsen Disease
Thomsen Generalized Myotonia
Thomsen's Disease
Thomsens Disease
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.