"Myotonia Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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
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| 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
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 more specific than "Myotonia Congenita".
This graph shows the total number of publications written about "Myotonia Congenita" by people in this website by year, and whether "Myotonia Congenita" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 2 | 0 | 2 |
| 2018 | 3 | 1 | 4 |
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Below are the most recent publications written about "Myotonia Congenita" by people in Profiles.
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Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology? Funct Neurol. 2018 Oct/Dec; 33(4):194-199.
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A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? Medicine (Baltimore). 2018 Jun; 97(22):e10785.
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Novel Lys215Asn mutation in an Italian family with Thomsen myotonia. Neurol Sci. 2018 08; 39(8):1491-1492.
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Beyond the muscular involvement in non-dystrophic myotonias: The emerging role of neuromodulation. Restor Neurol Neurosci. 2018; 36(4):459-467.
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Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). Arch Ital Biol. 2017 Dec 01; 155(4):118-130.
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Targeted Next Generation Sequencing in patients with Myotonia Congenita. Clin Chim Acta. 2017 Jul; 470:1-7.