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Myotonia Congenita

More information in Books or onNLM PubMed
Definition: 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.      Other names Thomsen Disease; Myotonia, Generalized, Becker; Becker Generalized Myotonia; Thomsen Generalized Myotonia; Myotonias, Generalized; Myotonia, Becker Generalized; Generalized Myotonias; Generalized Myotonia, Becker; Generalized Myotonia; Disease, Thomsens; Disease, Thomsen's; Disease, Thomsen; Disease, Becker; Thomsens Disease; Thomsen's Disease; Myotonia, Generalized; Myotonia Levior; Myotonia Congenita, Autosomal Dominant; Generalized Myotonia of Thomsen; Generalized Myotonia of Becker
 
SubstanceCAS Registry & nameCategoriesSource
Potassium aggravated myotonia  0   *Myotonia Congenita.
Native American myopathy  0   *Cleft Palate *Malignant Hyperthermia *Myotonia Congenita.
Brody myopathy  0   *Myotonia Congenita.
CLC-1 channel  0   *Chloride Channels Myotonia Congenita. Biophys J 1994 Jan;66(1):149-52

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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