Myotonia Congenita


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.