MCID: THM009
MIFTS: 6

Thomsen's Myotonia

Aliases & Classifications for Thomsen's Myotonia

MalaCards integrated aliases for Thomsen's Myotonia:

Name: Thomsen's Myotonia 55

Summaries for Thomsen's Myotonia

NINDS : 55 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

MalaCards based summary : Thomsen's Myotonia is related to myotonia and multiple sclerosis. An important gene associated with Thomsen's Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1).

Related Diseases for Thomsen's Myotonia

Diseases related to Thomsen's Myotonia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myotonia 10.4
2 multiple sclerosis 10.2
3 myotonia congenita 10.2

Symptoms & Phenotypes for Thomsen's Myotonia

Drugs & Therapeutics for Thomsen's Myotonia

Search Clinical Trials , NIH Clinical Center for Thomsen's Myotonia

Genetic Tests for Thomsen's Myotonia

Anatomical Context for Thomsen's Myotonia

Publications for Thomsen's Myotonia

Articles related to Thomsen's Myotonia:

# Title Authors Year
1
Co-occurrence of multiple sclerosis and Thomsen's myotonia: a report of two cases. ( 25764257 )
2014
2
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. ( 11353420 )
2001

Variations for Thomsen's Myotonia

Expression for Thomsen's Myotonia

Search GEO for disease gene expression data for Thomsen's Myotonia.

Pathways for Thomsen's Myotonia

GO Terms for Thomsen's Myotonia

Sources for Thomsen's Myotonia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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