| Descriptor English: | Myotonia Congenita | ||||||
| Descriptor Spanish: |
Miotonía Congénita
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| Descriptor Portuguese: | Miotonia Congênita | ||||||
| Descriptor French: | Myotonie congénitale | ||||||
| Entry term(s): |
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 |
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| Tree number(s): |
C05.651.662.500 C10.574.500.545 C10.668.491.606.500 C16.320.400.540 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009224 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Entry Version: | MYOTONIA CONGEN |
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| DeCS ID: | 9415 | ||||||
| Unique ID: | D009224 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Myotonia Congenita
- Preferred
Myotonia Levior
- Narrower
Generalized Myotonia of Thomsen
- Narrower
Becker Generalized Myotonia
- Narrower
| Concept UI |
M0014373 |
| Scope note | 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. |
| Preferred term | Myotonia Congenita |
| Entry term(s) |
Batten Turner Congenital Myopathy Batten-Turner Congenital Myopathy Congenital Myotonia Generalized Myotonia Generalized Myotonias Myopathy, Congenital Myotonia, Generalized Myotonias, Generalized |
| Concept UI |
M0337013 |
| Preferred term | Myotonia Levior |
| Concept UI |
M0540215 |
| Preferred term | Generalized Myotonia of Thomsen |
| Entry term(s) |
Disease, Thomsen Disease, Thomsen's Disease, Thomsens Myotonia Congenita, Autosomal Dominant Thomsen Disease Thomsen Generalized Myotonia Thomsen's Disease Thomsens Disease |
| Concept UI |
M0540216 |
| Preferred term | Becker Generalized Myotonia |
| Entry term(s) |
Becker Disease Disease, Becker Generalized Myotonia of Becker Generalized Myotonia, Becker Myotonia Congenita, Autosomal Recessive Myotonia, Becker Generalized Myotonia, Generalized, Becker |
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