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.

Descriptor ID	D009224
MeSH Number(s)	C05.651.662.500 C10.574.500.545 C10.668.491.606.500 C16.320.400.540
Concept/Terms	Myotonia Congenita Myotonia Congenita Batten-Turner Congenital Myopathy Myotonia, Generalized Generalized Myotonia Generalized Myotonias Myotonias, Generalized Congenital Myotonia Batten Turner Congenital Myopathy Myopathy, Congenital Myotonia Levior Myotonia Levior 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 Becker Generalized Myotonia Becker Generalized Myotonia Generalized Myotonia, Becker Myotonia, Becker Generalized Myotonia, Generalized, Becker Myotonia Congenita, Autosomal Recessive Becker Disease Disease, Becker Generalized Myotonia of Becker

Below are MeSH descriptors whose meaning is more general than "Myotonia Congenita".

Below are MeSH descriptors whose meaning is related to "Myotonia Congenita".

Below are MeSH descriptors whose meaning is more specific than "Myotonia Congenita".