MCID: MYT002
MIFTS: 54

Myotonic Dystrophy malady

Summaries for Myotonic Dystrophy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. it is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. this condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. people with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. the severity of the condition varies widely among affected people, even among members of the same family. there are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. the symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. myotonic dystrophy type 1 is caused by mutations in the dmpk gene, while type 2 is caused by mutations in the cnbp gene. last updated: 3/12/2014

MalaCards: Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy type 1 and myotonic dystrophy type 2. An important gene associated with Myotonic Dystrophy is DMPK (dystrophia myotonica-protein kinase), and among its related pathways are Ion channel transport and Adipogenesis. The compounds magnesium and Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, brain and testes, and related mouse phenotype muscle.

Genetics Home Reference:21 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Wikipedia:63 Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly... more...

Description from OMIM:46 602668,160900

Aliases & Classifications for Myotonic Dystrophy

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 46OMIM, 34MeSH
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Aliases & Descriptions:

myotonic dystrophy 8 63 42 22 21 10 44 60
dystrophia myotonica 8 63 42 21
myotonia dystrophica 63 42 21
myotonia atrophica 63 42 21
steinert myotonic dystrophy syndrome 63
curschmann-batten-steinert syndrome 63
steinert disease 63


External Ids:

Disease Ontology8 DOID:11722
NCIt39 C84914
MeSH34 D009223

Related Diseases for Myotonic Dystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Myotonic Dystrophy Type 1 family:

Myotonic Dystrophy Type 2 myotonic dystrophy
Congenital Myotonic Dystrophy

Diseases related to Myotonic Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy type 131.9DMPK
2myotonic dystrophy type 231.6CLCN1, CNBP, DMPK
3myotonic disease31.2CLCN1, DMPK
4myopathy30.9HSPB2, ATP2A1, DMPK, PDLIM3, CLCN1
5cataract30.6CNBP, DMPK, HSPB2, SIX5
6hypogonadism30.5DMPK
7muscular dystrophy10.7
8cerebritis10.5
9neuropathy10.5
10sleep disorder10.4
11neuronitis10.4
12myotonic cataract10.4
13duchenne muscular dystrophy10.4
14congenital myotonic dystrophy10.4
15polyhydramnios10.3
16muscular atrophy10.3
17corneal dystrophy10.3
18myasthenia gravis10.3
19peripheral neuropathy10.3
20craniometaphyseal dysplasia10.3
21becker muscular dystrophy10.3
22cholelithiasis10.3
23hydrocephalus10.3
24intestinal obstruction10.3
25intestinal pseudo-obstruction10.3
26laryngitis10.3
27neuromuscular disease10.3
28respiratory failure10.3
29spinal muscular atrophy10.3
30spinocerebellar ataxia10.3
31thymoma10.3
32newcastle disease10.2
33asperger syndrome10.2
34macular holes10.2
35glucose intolerance10.2
36limb-girdle muscular dystrophy10.2
37hypertrophic cardiomyopathy10.2
38fragile x syndrome10.2
39sick sinus syndrome10.2
40basal cell carcinoma10.2
41brain disease10.2
42cerebral palsy10.2
43cholestasis10.2
44laryngeal carcinoma10.2
45liver disease10.2
46megacolon10.2
47retinitis10.2
48atrioventricular block10.0
49pilomatrixoma10.0
50mitral valve prolapse10.0

Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to myotonic dystrophy

Clinical Features for Myotonic Dystrophy

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46OMIM
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Clinical features from OMIM:

602668,160900

Drugs & Therapeutics for Myotonic Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Myotonic Dystrophy

Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy

Search NIH Clinical Center for Myotonic Dystrophy

Search CenterWatch for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

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22GTR
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Genetic tests related to Myotonic Dystrophy:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy22

Anatomical Context for Myotonic Dystrophy

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32MalaCards
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MalaCards organs/tissues related to Myotonic Dystrophy:

32
Skeletal muscle, Brain, Testes, Heart, Liver, Eye, Lung, Smooth muscle, Endothelial, Placenta, Pituitary, B cells, Monocytes, Thyroid, Skin, Cerebellum, Occipital lobe

Animal Models for Myotonic Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myotonic Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536911.0FXYD1, CAPNS1, PDLIM3, MBNL1, MBNL2, DMPK

Publications for Myotonic Dystrophy

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50PubMed
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Articles related to Myotonic Dystrophy:

(show top 50)    (show all 1086)
idTitleAuthorsYear
1
Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. (24092878)
2014
2
Daytime sleepiness and myotonic dystrophy. (23430686)
2013
3
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. (24332166)
2013
4
Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. (23194837)
2013
5
Sugammadex in a parturient with myotonic dystrophy. (23508494)
2013
6
Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia. (23807294)
2013
7
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. (23680132)
2013
8
Inner ear dysfunction in myotonic dystrophy type 1. (23121018)
2013
9
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. (23890854)
2013
10
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. (22475848)
2012
11
Abnormal liver function tests in a patient with myotonic dystrophy type 1. (22166572)
2012
12
Decreased concentration of adiponectin together with a selective reduction of its high molecular weight oligomers is involved in metabolic complications of myotonic dystrophy type 1. (21964963)
2011
13
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges. (21821673)
2011
14
Chelerythrine perturbs lamellar actomyosin filaments by selective inhibition of myotonic dystrophy kinase-related Cdc42-binding kinase. (21457715)
2011
15
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. (21364698)
2011
16
Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. (22078098)
2011
17
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. (20479119)
2010
18
Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. (20514929)
2010
19
The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study. (20398425)
2010
20
Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts. (20797447)
2010
21
Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. (20689257)
2010
22
Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. (20513102)
2010
23
Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. (20798200)
2010
24
Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients. (20842397)
2010
25
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. (20179953)
2010
26
Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: targeting the RNAs that cause myotonic muscular dystrophy. (19904940)
2009
27
Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report. (19846307)
2009
28
Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2. (19713112)
2009
29
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. (19605641)
2009
30
Is intraocular pressure in myotonic dystrophy patients spuriously low? (19009949)
2008
31
Cardiac involvement over 10 years in myotonic and Becker muscular dystrophy and mitochondrial disorder. (17258336)
2007
32
Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling]. (15824798)
2005
33
Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data. (14733960)
2004
34
Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. (12704419)
2003
35
Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. (12031621)
2002
36
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. (11592825)
2001
37
Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha. (11283256)
2001
38
Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. (11528511)
2001
39
Detection of the CTG repeat expansion in congenital myotonic dystrophy. (9183996)
1997
40
Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease. (10732808)
1997
41
Diagnostic problems in congenital myotonic dystrophy. (8911909)
1996
42
Somatic cell heterogeneity between DNA extracted from lymphocytes and skeletal muscle in congenital myotonic dystrophy. (8851765)
1995
43
Abnormalities of N-linked oligosaccharide moieties of glycoproteins in patients with myotonic dystrophy]. (8752438)
1995
44
Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. (8198135)
1994
45
Central nervous system disorders in patients with myotonic dystrophy--in relation to respiratory dysfunction]. (1424335)
1992
46
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. (1303233)
1992
47
Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. (1970795)
1990
48
Binding activity and autophosphorylation of the insulin receptor from patients with myotonic dystrophy. (2195130)
1990
49
Ultrastructure of muscle spindle in congenital myotonic dystrophy. A study of preterm infant muscle spindles. (6228107)
1983
50
Hypersomnia associated with alveolar hypoventilation in myotonic dystrophy. (7202141)
1981

Genetic Variations for Myotonic Dystrophy

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Expression for genes affiliated with Myotonic Dystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for genes affiliated with Myotonic Dystrophy

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53Reactome, 37NCBI BioSystems Database
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Pathways related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6FXYD1, CLCN1, ATP2A1
210.6CELF1, MEF2D, MBNL1

Compounds for genes affiliated with Myotonic Dystrophy

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1magnesium44 11 2412.7CDC42BPB, CDC42BPG, CDC42BPA, ATP2A1, DMPK
2Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate1110.3INSR, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy

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16Gene Ontology
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Cellular components related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.9CAPNS1, MBNL1, MBNL2, MTMR1, CDC42BPA, CDC42BPG
2cell leading edgeGO:03125210.5CDC42BPB, CDC42BPG, CDC42BPA
3actomyosinGO:04264110.3CDC42BPB, CDC42BPA

Biological processes related to Myotonic Dystrophy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of RNA splicingGO:04348410.8MBNL1, MBNL2, MBNL3, CELF1
2actin cytoskeleton reorganizationGO:03153210.7CDC42BPA, CDC42BPG, CDC42BPB
3mRNA splice site selectionGO:00637610.6CELF1, MBNL1
4actomyosin structure organizationGO:03103210.6CDC42BPB, CDC42BPA
5regulation of alternative mRNA splicing, via spliceosomeGO:00038110.6MBNL1, MBNL2
6protein phosphorylationGO:00646810.6DMPK, CDC42BPA, CDC42BPG, CDC42BPB
7ion transmembrane transportGO:03422010.3ATP2A1, CLCN1, FXYD1

Molecular functions related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.0CAPNS1, PDLIM3, MBNL1, DMPK, MEF2D, ATP2A1
2small GTPase regulator activityGO:00508310.5CDC42BPA, CDC42BPG, CDC42BPB
3protein serine/threonine kinase activityGO:00467410.4CDC42BPB, DMPK, CDC42BPA, CDC42BPG

Products for genes affiliated with Myotonic Dystrophy

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Sources for Myotonic Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet