MCID: THM009
MIFTS: 9

Thomsen's Myotonia

Aliases & Classifications for Thomsen's Myotonia

MalaCards integrated aliases for Thomsen's Myotonia:

Name: Thomsen's Myotonia 54

Summaries for Thomsen's Myotonia

NINDS : 54 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 caused 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 myotonia congenita. 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 10.9
2 myotonia congenita 10.6
3 myotonia atrophica 10.4
4 multiple sclerosis 10.3
5 myotonia congenita, autosomal dominant 10.3
6 myasthenia gravis 10.3
7 muscular disease 10.3
8 demyelinating disease 10.3
9 muscular dystrophy 10.3
10 myotonic dystrophy 10.3

Graphical network of the top 20 diseases related to Thomsen's Myotonia:



Diseases related to Thomsen's Myotonia

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:

(show all 29)
# Title Authors PMID Year
1
Co-occurrence of multiple sclerosis and Thomsen's myotonia: a report of two cases. 38
25764257 2014
2
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. 38
23113340 2012
3
[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. 38
16557171 2006
4
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. 38
15162127 2004
5
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 38
11840191 2001
6
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. 38
11353420 2001
7
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. 38
8857727 1996
8
[Clinico-epidemiological aspects of hereditary neuromuscular diseases in the Krasnodar territory]. 38
1664610 1991
9
[Chemiluminescence of blood plasma and functional status of the erythrocytes of patients with various hereditary neuromuscular diseases]. 38
3577527 1987
10
[Clinico-electromyographic and electroneuromyographic characteristics of myotonias]. 38
3705838 1986
11
[Myotonic dystrophy]. 38
6232784 1983
12
[Electromyographic features of 3 forms of myotonia]. 38
7180301 1982
13
[Thomsen's myotonia and myotonic syndromes]. 38
7293052 1981
14
[Case of Thomsen's myotonia with an atypical course]. 38
7454460 1980
15
[Diagnostic difficulties in Thomsen's myotonia in a 10-year-old-boy]. 38
450784 1979
16
[Thomsen's myotonia (clinico-morphologic study)]. 38
857526 1977
17
[Treatment of patients with different forms of myotonia with diphenin and novocainamide]. 38
1015138 1976
18
[Thomsen's myotonia]. 38
4446545 1974
19
[Nosological similarity of Thomsen's myotonia and myotonia atrophica]. 38
5077769 1972
20
[Thomsen's myotonia congenita. (Clinical study of 4 cases)]. 38
5402142 1969
21
[Karyologic studies in cases of Thomsen's myotonia and atrophic myotonia]. 38
5803008 1969
22
[Case history contribution and findings in Thomsen's myotonia congenita]. 38
5994000 1966
23
[Thomsen's myotonia and myasthenia gravis. Considerations on a few clinical cases]. 38
13933106 1963
24
[CLINICAL AND GENEALOGICAL STUDIES OF THE FAMILY OF A PATIENT WITH THOMSEN'S MYOTONIA]. 38
14134366 1963
25
[Thomsen's myotonia congenita and its differential criterial with other muscular diseases. Study of a family presenting a special grouping of symptoms, in taking special note of the elimination of ribose in the urine]. 38
13751836 1960
26
[Experimental procaine amide therapy of Thomsen's myotonia]. 38
13446299 1957
27
[Notes on prednisone therapy of Thomsen's myotonia and Steinert's myotonic dystrophy; clinical and biochemical study]. 38
13501611 1957
28
[Pathophysiology of Thomsen's myotonia congenita]. 38
13407631 1956
29
[Thomsen's myotonia congenita]. 38
13153632 1953

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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