MCID: MYT002
MIFTS: 54

Myotonic Dystrophy malady

Summaries for Myotonic Dystrophy

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42NIH Rare Diseases, 21Genetics Home Reference, 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


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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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Sources:
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, Smooth muscle, Lung, Endothelial, Eye, Occipital lobe, B cells, Monocytes, Placenta, Skin, Thyroid, Cerebellum, Pituitary

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
Transcranial sonography in patients with myotonic dystrophy type 1. (24395217)
2014
2
Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". (23276392)
2013
3
Generalized epilepsy in a patient with myotonic dystrophy type 2. (24277201)
2013
4
The effect of rocuronium and sugammadex on neuromuscular blockade in a child with congenital myotonic dystrophy type 1. (23763618)
2013
5
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2. (24376746)
2013
6
New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy. (23507025)
2013
7
Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial. (22578232)
2012
8
Magnetic resonance imaging findings in adult-form myotonic dystrophy type 1. (22815033)
2012
9
Increased cancer risks in myotonic dystrophy. (22237010)
2012
10
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy. (22513715)
2012
11
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. (22453570)
2012
12
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. (22113158)
2012
13
Selective inhibition of MBNL1-CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2). (21768123)
2011
14
IgG deficiency and expansion of CTG repeats in myotonic dystrophy. (21371814)
2011
15
Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. (21303839)
2011
16
Congestive heart failure after physical exercise in a young patient with myotonic dystrophy type 1. (21815874)
2011
17
Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. (21437269)
2011
18
Talipes equinovarus as leading symptom of congenital myotonic dystrophy type 2. (21462219)
2011
19
High disease impact of myotonic dystrophy type 2 on physical and mental functioning. (21461958)
2011
20
Myotonic dystrophy and craniofacial morphology: clinical and instrumental study. (19364241)
2009
21
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex or consummate myotonic dystrophy? (19574710)
2009
22
Dramatic improvement of blood glucose control after pioglitazone treatment in poorly controlled over-weight diabetic patients with myotonic dystrophy. (19506327)
2009
23
Dysphagia is present but mild in myotonic dystrophy type 2. (19167224)
2009
24
Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. (19208413)
2009
25
Right atrial appendage versus Bachmann's bundle stimulation: a two-year comparative study of electrical parameters in myotonic dystrophy type-1 patients. (19719498)
2009
26
Hypothesis: neoplasms in myotonic dystrophy. (19642006)
2009
27
Left ventricular non-compaction in a patient with myotonic dystrophy type 2. (18395448)
2008
28
Recurrent erysipelas in myotonic dystrophy type 1 with IgG deficiency. (17389801)
2007
29
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. (17936705)
2007
30
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism. (16484664)
2006
31
Coiled-coil interactions modulate multimerization, mitochondrial binding and kinase activity of myotonic dystrophy protein kinase splice isoforms. (16519679)
2006
32
Multiple Myeloma and Peripheral Neuropathy in Myotonic Dystrophy Type 2 (DM2). (19078762)
2005
33
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. (15704146)
2005
34
Effects of a hand training programme in five patients with myotonic dystrophy type 1. (15962697)
2005
35
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. (15557517)
2004
36
CTG repeat number at the myotonic dystrophy locus in healthy Kuwaiti individuals: possible explanation of why myotonic dystrophy is rare in Kuwait. (15210527)
2004
37
Genetic study of somatic mosaicism in a patient with myotonic dystrophy type 1: case report. (15088500)
2003
38
Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. (12832055)
2003
39
Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. (12325072)
2002
40
Does abnormal neuronal excitability exist in myotonic dystrophy? II. Effects of the antiarrhythmic drug hydroquinidine on apathy and hypersomnia. (10938185)
2000
41
Pneumoperitoneum complicating mechanical ventilation in congenital myotonic dystrophy. (9241907)
1997
42
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. (8673131)
1996
43
Myotonic dystrophy: antisense oligonucleotide inhibition of DMPK gene expression in vitro. (8630033)
1996
44
Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. (7748368)
1995
45
Myotonic dystrophy: molecular analysis of Israeli patients. (7858174)
1994
46
Brain disease and molecular analysis in myotonic dystrophy. (7696601)
1994
47
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. (8358430)
1993
48
Intestinal pseudo-obstruction in myotonic dystrophy. (1453429)
1992
49
Mitochondrial DNA sequence analysis in congenital myotonic dystrophy. (1763896)
1991
50
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy. (1822780)
1991

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

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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:04348410.8CELF1, MBNL3, MBNL2, MBNL1
2actin cytoskeleton reorganizationGO:03153210.7CDC42BPA, CDC42BPG, CDC42BPB
3mRNA splice site selectionGO:00637610.6CELF1, MBNL1
4actomyosin structure organizationGO:03103210.6CDC42BPA, CDC42BPB
5regulation of alternative mRNA splicing, via spliceosomeGO:00038110.6MBNL2, MBNL1
6protein phosphorylationGO:00646810.6CDC42BPB, CDC42BPG, CDC42BPA, DMPK
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:00508310.5CDC42BPB, CDC42BPG, CDC42BPA
3protein serine/threonine kinase activityGO:00467410.4DMPK, CDC42BPA, CDC42BPG, CDC42BPB

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