MCID: MYT013
MIFTS: 25

Myotonia Congenita, Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Myotonia Congenita, Dominant

MalaCards integrated aliases for Myotonia Congenita, Dominant:

Name: Myotonia Congenita, Dominant 54 13
Myotonia Levior 71 29 69
Myotonia Congenita, Autosomal Dominant 24 71
Thomsen Disease 24 71
Generalized Myotonia of Thomsen 69
Thomsen's Myotonia 51
Thomsen Myotonia 24
Mcad 71
Thd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype and severity
worldwide prevalence of 1/100,000
increased prevalence in northern finland (7.3/100,000)
warm weather and alcohol are alleviating factors
affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
onset in childhood, adolescence
cold temperatures exacerbate symptoms
see also autosomal recessive form , which is more common and more severe


HPO:

32
myotonia congenita, dominant:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 160800
MeSH 42 D009224
SNOMED-CT via HPO 65 263681008 68962001 16046003

Summaries for Myotonia Congenita, Dominant

NINDS : 51 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 : Myotonia Congenita, Dominant, also known as myotonia levior, is related to medium-chain acyl-coenzyme a dehydrogenase deficiency and acyl-coa dehydrogenase, medium chain, deficiency of, and has symptoms including muscle stiffness, myalgia and percussion myotonia. An important gene associated with Myotonia Congenita, Dominant is CLCN1 (Chloride Voltage-Gated Channel 1). Affiliated tissues include skeletal muscle and tongue.

OMIM : 54
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease. See also paramyotonia congenita (PMC; 168300) and potassium-aggravated myotonia (608390), overlapping phenotypes caused by mutations in the SCN4A gene (603967). (160800)

UniProtKB/Swiss-Prot : 71 Myotonia congenita, autosomal dominant: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).

Related Diseases for Myotonia Congenita, Dominant

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Recessive Myotonia Congenita, Dominant

Diseases related to Myotonia Congenita, Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.8
2 acyl-coa dehydrogenase, medium chain, deficiency of 11.0
3 segawa syndrome, recessive 10.8
4 carnitine palmitoyltransferase i deficiency , muscle 10.8
5 mast cell activation syndrome 10.8
6 sudden infant death syndrome 10.0
7 myotonia 9.9
8 myotonia congenita 9.9
9 cerebritis 9.7
10 fatty acid oxidation disorders 9.7
11 cystic fibrosis 9.7
12 acute liver failure 9.7
13 hepatitis 9.7
14 congenital adrenal hyperplasia 9.7

Graphical network of the top 20 diseases related to Myotonia Congenita, Dominant:



Diseases related to Myotonia Congenita, Dominant

Symptoms & Phenotypes for Myotonia Congenita, Dominant

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
muscle hypertrophy
muscle stiffness
myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)
delayed relaxation of muscle fibers after contraction
myotonia is most pronounced in the extremities
more
Head And Neck- Mouth:
tongue myotonia

Head And Neck- Eyes:
eyelid myotonia
lid lag


Clinical features from OMIM:

160800

Human phenotypes related to Myotonia Congenita, Dominant:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 muscle stiffness 32 very rare (1%) HP:0003552
2 myalgia 32 occasional (7.5%) HP:0003326
3 percussion myotonia 32 very rare (1%) HP:0010548
4 handgrip myotonia 32 HP:0012899
5 skeletal muscle hypertrophy 32 very rare (1%) HP:0003712
6 emg 32 HP:0003730
7 myotonia with warm-up phenomenon 32 very rare (1%) HP:0003740

UMLS symptoms related to Myotonia Congenita, Dominant:


muscular stiffness, lid lag

Drugs & Therapeutics for Myotonia Congenita, Dominant

Search Clinical Trials , NIH Clinical Center for Myotonia Congenita, Dominant

Genetic Tests for Myotonia Congenita, Dominant

Genetic tests related to Myotonia Congenita, Dominant:

id Genetic test Affiliating Genes
1 Myotonia Levior 29
2 Myotonia Congenita, Autosomal Dominant 24 CLCN1

Anatomical Context for Myotonia Congenita, Dominant

MalaCards organs/tissues related to Myotonia Congenita, Dominant:

39
Skeletal Muscle, Tongue

Publications for Myotonia Congenita, Dominant

Variations for Myotonia Congenita, Dominant

UniProtKB/Swiss-Prot genetic disease variations for Myotonia Congenita, Dominant:

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 CLCN1 p.Phe161Val VAR_001586
2 CLCN1 p.Gly200Arg VAR_001589
3 CLCN1 p.Gly230Glu VAR_001590 rs80356700
4 CLCN1 p.Val286Ala VAR_001594 rs80356689
5 CLCN1 p.Ile290Met VAR_001595 rs80356690
6 CLCN1 p.Phe307Ser VAR_001598 rs80356701
7 CLCN1 p.Ala313Thr VAR_001599 rs80356692
8 CLCN1 p.Arg317Gln VAR_001600 rs80356702
9 CLCN1 p.Arg338Gln VAR_001603 rs80356703
10 CLCN1 p.Pro480Leu VAR_001607 rs80356694
11 CLCN1 p.Gln552Arg VAR_001611 rs80356696
12 CLCN1 p.Ile556Asn VAR_001612 rs80356697
13 CLCN1 p.Met128Val VAR_075591 rs80356699
14 CLCN1 p.Glu193Lys VAR_075597 rs80356686
15 CLCN1 p.Leu198Pro VAR_075599
16 CLCN1 p.Phe484Leu VAR_075605
17 CLCN1 p.Pro480His VAR_077244

ClinVar genetic disease variations for Myotonia Congenita, Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CLCN1 NM_000083.2(CLCN1): c.1238T> G (p.Phe413Cys) single nucleotide variant Pathogenic rs121912799 GRCh37 Chromosome 7, 143029583: 143029583
2 CLCN1 NM_000083.2(CLCN1): c.689G> A (p.Gly230Glu) single nucleotide variant Pathogenic rs80356700 GRCh37 Chromosome 7, 143018934: 143018934
3 CLCN1 NM_000083.2(CLCN1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs80356694 GRCh37 Chromosome 7, 143036383: 143036383
4 CLCN1 NM_000083.2(CLCN1): c.1655A> G (p.Gln552Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80356696 GRCh37 Chromosome 7, 143039094: 143039094
5 CLCN1 NM_000083.2(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 GRCh37 Chromosome 7, 143027881: 143027881
6 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic rs80356702 GRCh37 Chromosome 7, 143027961: 143027961
7 CLCN1 NM_000083.2(CLCN1): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic rs80356699 GRCh37 Chromosome 7, 143017837: 143017837
8 CLCN1 NM_000083.2(CLCN1): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic rs121912810 GRCh37 Chromosome 7, 143018811: 143018811
9 CLCN1 CLCN1, TRP433ARG undetermined variant Pathogenic
10 CLCN1 NM_000083.2(CLCN1): c.920T> C (p.Phe307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs80356701 GRCh37 Chromosome 7, 143027931: 143027931

Expression for Myotonia Congenita, Dominant

Search GEO for disease gene expression data for Myotonia Congenita, Dominant.

Pathways for Myotonia Congenita, Dominant

GO Terms for Myotonia Congenita, Dominant

Sources for Myotonia Congenita, Dominant

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
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37 KEGG
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42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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