Name | Myotonia Congenita |
---|---|
Synonyms | Batten Turner Congenital Myopathy | Batten-Turner Congenital Myopathy | Becker Disease | Becker Generalized Myotonia | Congenital Myotonia | Disease, Becker | Disease, Thomsen | Disease, Thomsens | Disease, Thomsen's | Generalized Myotonia | Generalized Myotonia, Becker | Generalized Myotonia of Becker | Generalized Myotonia of Thomsen | Generalized Myotonias | Myopathy, Congenital | Myotonia, Becker Generalized | Myotonia Congenita, Autosomal Dominant | Myotonia Congenita, Autosomal Recessive | Myotonia, Generalized | Myotonia, Generalized, Becker | Myotonia Levior | Myotonias, Generalized | Thomsen Disease | Thomsen Generalized Myotonia | Thomsen's Disease | Thomsens Disease |
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. |
Categories | Genetic disease (inborn) | Musculoskeletal disease | Nervous system disease |
MeSH® ID | D009224 |
OMIM® IDs | 255300 | 255700 |
External Links |
|
1. |
Diseases
←
Musculoskeletal Diseases
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
2. |
Diseases
←
Nervous System Diseases
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
3. |
Diseases
←
Nervous System Diseases
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
4. |
Diseases
←
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |