MCID: MYT002
MIFTS: 65

Myotonic Dystrophy malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases categories

Summaries for Myotonic Dystrophy

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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). The compounds DG(22:0/16:0/0:0) and DG(20:5(5Z,8Z,11Z,14Z,17Z)/20:3(8Z,11Z,14Z)/0:0) have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, brain and heart, and related mouse phenotype muscle.

Wikipedia:66 Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly... more...

Description from OMIM:48 602668,160900

Aliases & Classifications for Myotonic Dystrophy

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 48OMIM, 36MeSH
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Classifications:



Aliases & Descriptions:

myotonic dystrophy 9 66 44 23 22 11 46 63
dystrophia myotonica 9 66 44 22
myotonia dystrophica 66 44 22
myotonia atrophica 66 44 22
steinert myotonic dystrophy syndrome 66
curschmann-batten-steinert syndrome 66
steinert disease 66


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Disease Ontology9 DOID:11722
NCIt41 C84914
MeSH36 D009223

Related Diseases for Myotonic Dystrophy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to myotonic dystrophy

Symptoms for Myotonic Dystrophy

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48OMIM
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Clinical features from OMIM:

602668,160900

Drugs & Therapeutics for Myotonic Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Myotonic Dystrophy

Search CenterWatch for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

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23GTR
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Genetic tests related to Myotonic Dystrophy:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy23

Anatomical Context for Myotonic Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Myotonic Dystrophy:

34
Skeletal muscle, Brain, Heart, Testes, Liver, Endothelial, Lung, Eye, Smooth muscle, Thyroid, Placenta, Cerebellum, Occipital lobe

Animal Models for Myotonic Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Myotonic Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.8MBNL1, SIX5, PDLIM3, CLCN1, INSR, ATP2A1

Publications for Myotonic Dystrophy

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53PubMed
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Articles related to Myotonic Dystrophy:

(show top 50)    (show all 1061)
idTitleAuthorsYear
1
Transcranial sonography in patients with myotonic dystrophy type 1. (24395217)
2014
2
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. (24310756)
2013
3
Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length. (23811192)
2013
4
Daytime sleepiness and myotonic dystrophy. (23430686)
2013
5
Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells. (21567201)
2012
6
Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. (22959494)
2012
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
A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization. (23091329)
2012
9
Emergency caesarean section in a patient with myotonic dystrophy: a case of failed postoperative extubation in a patient with mild disease. (21485681)
2011
10
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. (21777352)
2011
11
Alternative splicing of PDLIM3/ALP, for I+-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. (21549096)
2011
12
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association? (21948056)
2011
13
Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 A9 1 nucleotide UU internal loop conformations. (21988728)
2011
14
CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. (20801043)
2010
15
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. (19903450)
2010
16
Congenital myotonic dystrophy in a national registry. (21966237)
2010
17
Fluoxetine blocks myotonic runs and reverts abnormal surface electromyogram pattern in patients with myotonic dystrophy type 1. (19667977)
2009
18
Laparoscopic cholecystectomy for cholelithiasis in a patient with myotonic dystrophy. (19660233)
2009
19
Non-ischemic cardiomyopathy attributed to adult myotonic dystrophy. (19949641)
2009
20
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. (19345584)
2009
21
Myotonic dystrophy and pregnancy. (19813690)
2009
22
MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy]. (19567095)
2009
23
Is intraocular pressure in myotonic dystrophy patients spuriously low? (19009949)
2008
24
Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2. (19224318)
2008
25
Sudden death in myotonic dystrophy. (18846682)
2008
26
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. (17987120)
2007
27
Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. (17238150)
2007
28
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. (17942744)
2007
29
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. (17204048)
2007
30
Somatic CTG*CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy. (17645799)
2007
31
Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. (16391559)
2006
32
Myotonic dystrophies type 1 and 2: a summary on current aspects. (17027856)
2006
33
Italian guidelines for molecular analysis in myotonic dystrophies. (17039977)
2006
34
Congenital myotonic dystrophy--the significance of a handshake]. (16440558)
2006
35
Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). (16696870)
2006
36
Aerobic training in patients with myotonic dystrophy type 1. (15852373)
2005
37
Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1. (15277156)
2004
38
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (14526184)
2003
39
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)
2002
40
Congenital myotonic dystrophy. (11407162)
2001
41
Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. (10332037)
1999
42
Developmental regulation of myotonic dystrophy protein kinase in human muscle cells in vitro. (9607721)
1998
43
Correlation between gene analysis and endocrine abnormalities in the patients with myotonic dystrophy]. (9436440)
1997
44
Pneumoperitoneum complicating mechanical ventilation in congenital myotonic dystrophy. (9241907)
1997
45
De novo myotonic dystrophy mutation in a Nigerian kindred. (7726160)
1995
46
Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. (1970795)
1990
47
The syntenic relationship of proximal mouse chromosome 7 and the myotonic dystrophy gene region on human chromosome 19q. (2307474)
1990
48
Congenital myotonic dystrophy. Changes in muscle pathology with ageing. (3806137)
1987
49
Familial mitral valve prolapse and myotonic dystrophy. (937918)
1976
50
Myxedema and myotonic dystrophy. (5008040)
1972

Variations for Myotonic Dystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myotonic Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenic/card/myotonic_dystrophy

Expression for genes affiliated with Myotonic Dystrophy

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Myotonic Dystrophy

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Myotonic Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 844)
idCompoundScoreTop Affiliating Genes
1DG(22:0/16:0/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
2DG(20:5(5Z,8Z,11Z,14Z,17Z)/20:3(8Z,11Z,14Z)/0:0)259.2CDC42BPB, CDC42BPA, CDC42BPG
3DG(20:5(5Z,8Z,11Z,14Z,17Z)/14:0/0:0)259.2CDC42BPB, CDC42BPA, CDC42BPG
4DG(22:0/20:5(5Z,8Z,11Z,14Z,17Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
5DG(22:1(13Z)/18:1(11Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
6DG(22:1(13Z)/22:2(13Z,16Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
7DG(20:4(8Z,11Z,14Z,17Z)/20:1(11Z)/0:0)259.2CDC42BPB, CDC42BPA, CDC42BPG
8DG(20:3(5Z,8Z,11Z)/22:0/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
9DG(20:3(8Z,11Z,14Z)/18:1(9Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
10DG(20:3(8Z,11Z,14Z)/22:4(7Z,10Z,13Z,16Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
11DG(20:4(5Z,8Z,11Z,14Z)/18:3(9Z,12Z,15Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
12DG(20:4(5Z,8Z,11Z,14Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
13DG(20:3(5Z,8Z,11Z)/16:1(9Z)/0:0)259.2CDC42BPB, CDC42BPA, CDC42BPG
14DG(22:2(13Z,16Z)/18:3(6Z,9Z,12Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
15DG(22:5(7Z,10Z,13Z,16Z,19Z)/20:4(8Z,11Z,14Z,17Z)/0:0)259.2CDC42BPA, CDC42BPB, CDC42BPG
16DG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:0/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
17DG(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/22:1(13Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
18DG(24:0/18:2(9Z,12Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
19DG(24:0/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
20DG(24:1(15Z)/18:4(6Z,9Z,12Z,15Z)/0:0)259.2CDC42BPG, CDC42BPA, CDC42BPB
21DG(22:5(7Z,10Z,13Z,16Z,19Z)/15:0/0:0)259.2CDC42BPB, CDC42BPG, CDC42BPA
22DG(22:2(13Z,16Z)/22:5(7Z,10Z,13Z,16Z,19Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
23DG(22:4(7Z,10Z,13Z,16Z)/20:0/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
24DG(22:4(7Z,10Z,13Z,16Z)/24:1(15Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
25DG(22:5(4Z,7Z,10Z,13Z,16Z)/20:3(5Z,8Z,11Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
26DG(14:0/18:3(6Z,9Z,12Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
27DG(16:0/20:4(8Z,11Z,14Z,17Z)/0:0)259.1CDC42BPA, CDC42BPB, CDC42BPG
28DG(16:1(9Z)/22:0/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
29DG(18:0/22:4(7Z,10Z,13Z,16Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
30DG(18:1(11Z)/18:3(6Z,9Z,12Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
31DG(18:1(11Z)/22:5(7Z,10Z,13Z,16Z,19Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
32DG(18:1(9Z)/24:1(15Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
33DG(16:0/15:0/0:0)259.1CDC42BPB, CDC42BPG, CDC42BPA
34DG(14:0/22:5(7Z,10Z,13Z,16Z,19Z)/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
35DG(14:1(9Z)/20:0/0:0)259.1CDC42BPG, CDC42BPA, CDC42BPB
36DG(14:1(9Z)/24:1(15Z)/0:0)259.0CDC42BPG, CDC42BPA, CDC42BPB
37DG(15:0/20:3(5Z,8Z,11Z)/0:0)259.0CDC42BPG, CDC42BPA, CDC42BPB
38DG(18:2(9Z,12Z)/20:3(5Z,8Z,11Z)/0:0)259.0CDC42BPG, CDC42BPA, CDC42BPB
39DG(18:4(6Z,9Z,12Z,15Z)/22:5(4Z,7Z,10Z,13Z,16Z)/0:0)259.0CDC42BPB, CDC42BPA, CDC42BPG
40DG(20:0/18:4(6Z,9Z,12Z,15Z)/0:0)259.0CDC42BPG, CDC42BPA, CDC42BPB
41DG(20:0/24:0/0:0)259.0CDC42BPG, CDC42BPA, CDC42BPB
42DG(20:1(11Z)/20:2(11Z,14Z)/0:0)258.9CDC42BPG, CDC42BPA, CDC42BPB
43DG(20:2(11Z,14Z)/14:1(9Z)/0:0)258.9CDC42BPG, CDC42BPA, CDC42BPB
44DG(20:2(11Z,14Z)/20:4(5Z,8Z,11Z,14Z)/0:0)258.9CDC42BPG, CDC42BPA, CDC42BPB
45DG(18:3(6Z,9Z,12Z)/15:0/0:0)258.8CDC42BPG, CDC42BPA, CDC42BPB
46DG(18:3(6Z,9Z,12Z)/20:4(8Z,11Z,14Z,17Z)/0:0)258.8CDC42BPG, CDC42BPA, CDC42BPB
47DG(18:4(6Z,9Z,12Z,15Z)/18:2(9Z,12Z)/0:0)258.8CDC42BPG, CDC42BPA, CDC42BPB
48DG(18:3(9Z,12Z,15Z)/18:0/0:0)258.7CDC42BPG, CDC42BPA, CDC42BPB
49DG(18:3(9Z,12Z,15Z)/22:1(13Z)/0:0)258.5CDC42BPG, CDC42BPA, CDC42BPB
50magnesium46 25 1210.4CDC42BPG, CDC42BPA, CDC42BPB, ATP2A1, DMPK

GO Terms for genes affiliated with Myotonic Dystrophy

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17Gene Ontology
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Cellular components related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:0330179.7ATP2A1, DMPK
2actomyosinGO:0426419.3CDC42BPA, CDC42BPB
3cell leading edgeGO:0312528.7CDC42BPG, CDC42BPA, CDC42BPB

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

idNameGO IDScoreTop Affiliating Genes
1regulation of RNA splicingGO:0434849.6MBNL1, CELF1
2mRNA splice site selectionGO:0063769.5MBNL1, CELF1
3actomyosin structure organizationGO:0310329.3CDC42BPA, CDC42BPB
4actin cytoskeleton reorganizationGO:0315328.8CDC42BPG, CDC42BPA, CDC42BPB
5protein phosphorylationGO:0064688.5DMPK, CDC42BPB, CDC42BPA, CDC42BPG

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase regulator activityGO:0050838.8CDC42BPG, CDC42BPA, CDC42BPB
2magnesium ion bindingGO:0002878.8CDC42BPG, CDC42BPA, CDC42BPB
3protein serine/threonine kinase activityGO:0046748.5DMPK, CDC42BPB, CDC42BPA, CDC42BPG
4ATP bindingGO:0055247.4DMPK, ATP2A1, INSR, CDC42BPB, CDC42BPA, CDC42BPG
5protein bindingGO:0055156.0DMPK, ATP2A1, INSR, CELF1, PDLIM3, SIX5

Products for genes affiliated with Myotonic Dystrophy

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Sources for Myotonic Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet