MCID: MYT012
MIFTS: 25

Myotonia Congenita, Recessive

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

Aliases & Classifications for Myotonia Congenita, Recessive

MalaCards integrated aliases for Myotonia Congenita, Recessive:

Name: Myotonia Congenita, Recessive 54 13
Myotonia Congenita, Autosomal Recessive 24 71
Becker's Myotonia 24 51
Becker Disease 24 71
Obscure African Cardiomyopathy 69
Becker Generalized Myotonia 69
Becker Muscular Dystrophy 69
Generalized Myotonia 71
Myotonia Congenita 69
Mcar 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
myotonia congenita, recessive:
Onset and clinical course phenotypic variability childhood onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myotonia Congenita, Recessive

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, Recessive, also known as myotonia congenita, autosomal recessive, is related to myotonia congenita and myotonia, and has symptoms including dysphagia, muscle weakness and muscle stiffness. An important gene associated with Myotonia Congenita, Recessive is CLCN1 (Chloride Voltage-Gated Channel 1). Affiliated tissues include skeletal muscle and tongue.

UniProtKB/Swiss-Prot : 71 Myotonia congenita, autosomal recessive: 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 recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).

OMIM : 54
Autosomal recessive myotonia congenita is a nondystrophic 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. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease. (255700)

Related Diseases for Myotonia Congenita, Recessive

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Recessive Myotonia Congenita, Dominant

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

id Related Disease Score Top Affiliating Genes
1 myotonia congenita 10.0
2 myotonia 10.0

Comorbidity relations with Myotonia Congenita, Recessive via Phenotypic Disease Network (PDN):


Familial Atrial Fibrillation Heart Disease
Ischemic Heart Disease

Symptoms & Phenotypes for Myotonia Congenita, Recessive

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Eyes:
eyelid myotonia
lid lag

Muscle Soft Tissue:
muscle stiffness
muscle pain
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


Clinical features from OMIM:

255700

Human phenotypes related to Myotonia Congenita, Recessive:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 muscle weakness 32 very rare (1%) HP:0001324
3 muscle stiffness 32 very rare (1%) HP:0003552
4 myalgia 32 very rare (1%) HP:0003326
5 percussion myotonia 32 very rare (1%) HP:0010548
6 muscle hypertrophy of the lower extremities 32 HP:0008968
7 skeletal muscle hypertrophy 32 very rare (1%) HP:0003712
8 emg 32 HP:0003730
9 myotonia with warm-up phenomenon 32 very rare (1%) HP:0003740

UMLS symptoms related to Myotonia Congenita, Recessive:


muscular stiffness, myalgia, lid lag, weakness

Drugs & Therapeutics for Myotonia Congenita, Recessive

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

Genetic Tests for Myotonia Congenita, Recessive

Genetic tests related to Myotonia Congenita, Recessive:

id Genetic test Affiliating Genes
1 Myotonia Congenita, Autosomal Recessive 24 CLCN1

Anatomical Context for Myotonia Congenita, Recessive

MalaCards organs/tissues related to Myotonia Congenita, Recessive:

39
Skeletal Muscle, Tongue

Publications for Myotonia Congenita, Recessive

Variations for Myotonia Congenita, Recessive

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

71 (show all 37)
id Symbol AA change Variation ID SNP ID
1 CLCN1 p.Arg105Cys VAR_001582 rs201509501
2 CLCN1 p.Asp136Gly VAR_001584
3 CLCN1 p.Tyr150Cys VAR_001585
4 CLCN1 p.Phe161Val VAR_001586
5 CLCN1 p.Val165Gly VAR_001587
6 CLCN1 p.Phe167Leu VAR_001588 rs149729531
7 CLCN1 p.Gly200Arg VAR_001589
8 CLCN1 p.Gly230Glu VAR_001590 rs80356700
9 CLCN1 p.Val236Leu VAR_001591
10 CLCN1 p.Tyr261Cys VAR_001592 rs200621976
11 CLCN1 p.Gly285Glu VAR_001593 rs150885084
12 CLCN1 p.Glu291Lys VAR_001596 rs121912805
13 CLCN1 p.Ala313Thr VAR_001599 rs80356692
14 CLCN1 p.Val327Ile VAR_001601 rs774396430
15 CLCN1 p.Ile329Thr VAR_001602
16 CLCN1 p.Arg338Gln VAR_001603 rs80356703
17 CLCN1 p.Phe413Cys VAR_001604 rs121912799
18 CLCN1 p.Ala415Val VAR_001605
19 CLCN1 p.Gly482Arg VAR_001608 rs746125212
20 CLCN1 p.Met485Val VAR_001609 rs146457619
21 CLCN1 p.Arg496Ser VAR_001610 rs121912801
22 CLCN1 p.Gln552Arg VAR_001611 rs80356696
23 CLCN1 p.Ile556Asn VAR_001612 rs80356697
24 CLCN1 p.Val563Ile VAR_001613
25 CLCN1 p.Phe708Leu VAR_001614
26 CLCN1 p.Gln43Arg VAR_075588
27 CLCN1 p.Tyr137Asp VAR_075592 rs748639603
28 CLCN1 p.Gln160His VAR_075594 rs771532474
29 CLCN1 p.Trp164Arg VAR_075595
30 CLCN1 p.Gly190Ser VAR_075596 rs797045032
31 CLCN1 p.Ile197Arg VAR_075598
32 CLCN1 p.Gly270Val VAR_075600
33 CLCN1 p.Cys277Arg VAR_075601 rs757109632
34 CLCN1 p.Cys277Tyr VAR_075602
35 CLCN1 p.Gln412Pro VAR_075603
36 CLCN1 p.Gly499Arg VAR_075606 rs121912807
37 CLCN1 p.Val640Gly VAR_075612

ClinVar genetic disease variations for Myotonia Congenita, Recessive:

6 (show all 15)
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 CLCN1, IVSDS, G-A, +1 single nucleotide variant Pathogenic
3 CLCN1 NM_000083.2(CLCN1): c.1488G> T (p.Arg496Ser) single nucleotide variant Pathogenic rs121912801 GRCh37 Chromosome 7, 143036620: 143036620
4 CLCN1 CLCN1, GLY482ARG undetermined variant Pathogenic
5 CLCN1 CLCN1, 14-BP DEL deletion Pathogenic
6 CLCN1 NM_000083.2(CLCN1): c.871G> A (p.Glu291Lys) single nucleotide variant Pathogenic rs121912805 GRCh37 Chromosome 7, 143027882: 143027882
7 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic rs80356702 GRCh37 Chromosome 7, 143027961: 143027961
8 CLCN1 NM_000083.2(CLCN1): c.1495G> A (p.Gly499Arg) single nucleotide variant Pathogenic rs121912807 GRCh37 Chromosome 7, 143036627: 143036627
9 CLCN1 CLCN1, 1-BP INS, 831G insertion Pathogenic
10 CLCN1 CLCN1, ARG300TER undetermined variant Pathogenic
11 CLCN1 CLCN1, TRP433ARG undetermined variant Pathogenic
12 CLCN1 NM_000083.2(CLCN1): c.920T> C (p.Phe307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs80356701 GRCh37 Chromosome 7, 143027931: 143027931
13 CLCN1 NG_009815.1: g.19647-?_28496+?dup duplication Pathogenic
14 CLCN1 NM_000083.2(CLCN1): c.568_569delGGinsTC (p.Gly190Ser) indel Pathogenic/Likely pathogenic rs797045032 GRCh37 Chromosome 7, 143018813: 143018814
15 CLCN1 NM_000083.2(CLCN1): c.180+3A> T single nucleotide variant Pathogenic rs202217420 GRCh37 Chromosome 7, 143013488: 143013488

Expression for Myotonia Congenita, Recessive

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

Pathways for Myotonia Congenita, Recessive

GO Terms for Myotonia Congenita, Recessive

Sources for Myotonia Congenita, Recessive

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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