MCID: MYT002
MIFTS: 49

Myotonic Dystrophy malady

Summaries for Myotonic Dystrophy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 during a person's twenties or thirties. 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 seen in patients with myotonic dystrophy type 2 tends to be milder than those observed in 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 mutations in the cnbp gene are responsible for myotonic dystrophy type 2. last updated: 7/15/2011

MalaCards: Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy type 2 and myotonic dystrophy type 1. 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. 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:64 Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly... more...

Description from OMIM:47 602668,160900

Aliases & Classifications for Myotonic Dystrophy

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 47OMIM, 35MeSH
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Aliases & Descriptions:

myotonic dystrophy 8 64 43 22 21 10 45 61
dystrophia myotonica 8 64 43 21
myotonia atrophica 64 43 21
myotonia dystrophica 64 21
steinert myotonic dystrophy syndrome 64
curschmann-batten-steinert syndrome 64
steinert disease 64


External Ids:

Disease Ontology8 DOID:11722
NCIt40 C84914
MeSH35 D009223

Related Diseases for Myotonic Dystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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 119)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy type 231.1CLCN1, CNBP, DMPK
2myotonic dystrophy type 131.0DMPK
3thomsen disease30.3CLCN1, CNBP
4congenital myotonic dystrophy11.1
5myotonia10.8
6sleep disorder10.5
7hypersomnia10.5
8insulin resistance10.5
9myotonic cataract10.4
10duchenne muscular dystrophy10.4
11ataxia10.4
12polyhydramnios10.4
13muscular atrophy10.4
14dysphagia10.4
15becker muscular dystrophy10.3
16cholelithiasis10.3
17spinal muscular atrophy10.3
18spinocerebellar ataxia10.3
19thymoma10.3
20talipes equinovarus10.3
21macular dystrophy10.3
22craniometaphyseal dysplasia10.3
23aminoaciduria10.2
24newcastle disease10.2
25machado-joseph disease10.2
26huntington's disease10.2
27friedreich ataxia10.2
28asperger syndrome10.2
29macular holes10.2
30glucose intolerance10.2
31limb-girdle muscular dystrophy10.2
32hypertrophic cardiomyopathy10.2
33sick sinus syndrome10.2
34basal cell carcinoma10.2
35brain disease10.2
36type c thymoma10.2
37myopathy congenital10.2
38hydrops fetalis10.2
39hypoaldosteronism10.2
40sleep apnea10.2
41cardiac conduction defect10.2
42atrioventricular block10.0
43pilomatrixoma10.0
44mitral valve prolapse10.0
45normal pressure hydrocephalus10.0
46neuroendocrine carcinoma10.0
47progressive muscular atrophy10.0
48syringomyelia10.0
49laryngeal small cell carcinoma10.0
50lateral sclerosis10.0

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



Diseases related to myotonic dystrophy

Clinical Features for Myotonic Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

602668,160900

Drugs & Therapeutics for Myotonic Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Myotonic Dystrophy:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy22

Anatomical Context for Myotonic Dystrophy

Animal Models for Myotonic Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Myotonic Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536911.0FXYD1, CAPNS1, PDLIM3, MBNL1, MBNL2, DMPK

Publications for Myotonic Dystrophy

Sources:
51PubMed
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Articles related to Myotonic Dystrophy:

(show top 50)    (show all 1081)
idTitleAuthorsYear
1
Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy. (24417793)
2013
2
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. (23803495)
2013
3
Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. (23194837)
2013
4
Dependent and paranoid personality patterns in myotonic dystrophy type 1. (24032453)
2013
5
Sugammadex in a parturient with myotonic dystrophy. (23508494)
2013
6
Compound loss of muscleblind-like function in myotonic dystrophy. (24293317)
2013
7
Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients. (24289806)
2013
8
The effect of atrial preference pacing on paroxysmal atrial fibrillation incidence in myotonic dystrophy type 1 patients: a prospective, randomized, single-bind cross-over study. (22135319)
2012
9
Heart rate variability in myotonic dystrophy type 1 patients. (22406991)
2012
10
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. (22475848)
2012
11
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. (22643181)
2012
12
2010 Marigold therapeutic strategies for myotonic dystrophy. (21852134)
2012
13
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges. (21821673)
2011
14
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. (20935170)
2011
15
Long-term follow-up of patients with myotonic dystrophy: an electrocardiogram every year is not necessary. (21113052)
2011
16
Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts. (20797447)
2010
17
Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. (20689257)
2010
18
Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. (20513102)
2010
19
Toward understanding cognitive impairment in patients with myotonic dystrophy type 1. (20237049)
2010
20
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease. (20644219)
2010
21
Oral health status in a group of children and adolescents with myotonic dystrophy type 1 over a 4-year period. (19732192)
2009
22
Premutation allele pool in myotonic dystrophy type 2. (19020295)
2009
23
Myotonic dystrophy type 1 requires close cardiologic and neurologic surveillance. (19178038)
2008
24
Sudden death in myotonic dystrophy. (18846684)
2008
25
Hypermetropia and esotropia in myotonic dystrophy. (18029209)
2008
26
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. (17204048)
2007
27
Towards an integrative approach to the management of myotonic dystrophy type 1. (17449544)
2007
28
Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli. (17012280)
2006
29
Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling]. (15824798)
2005
30
Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data. (14733960)
2004
31
Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. (15452841)
2004
32
Congenital myotonic dystrophy complicated by ventricular tachycardia--early onset in infancy. (15228577)
2004
33
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. (14659414)
2004
34
Tent-shaped mouth as a presenting symptom of congenital myotonic dystrophy. (12230465)
2002
35
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. (11592825)
2001
36
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. (11590131)
2001
37
Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. (11455309)
2001
38
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. (9949207)
1999
39
Detection of the CTG repeat expansion in congenital myotonic dystrophy. (9183996)
1997
40
Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? (9196902)
1997
41
The lower incidence of myotonic dystrophy in Ashkenazic Jews compared to North African Jews is associated with a significantly lower number of CTG trinucleotide repeats. (9313789)
1997
42
Diagnostic problems in congenital myotonic dystrophy. (8911909)
1996
43
De novo myotonic dystrophy mutation in a Nigerian kindred. (7726160)
1995
44
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. (8595416)
1995
45
Somatic cell heterogeneity between DNA extracted from lymphocytes and skeletal muscle in congenital myotonic dystrophy. (8851765)
1995
46
Abnormalities of N-linked oligosaccharide moieties of glycoproteins in patients with myotonic dystrophy]. (8752438)
1995
47
Central nervous system disorders in patients with myotonic dystrophy--in relation to respiratory dysfunction]. (1424335)
1992
48
Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy. (1975560)
1990
49
Myotonic dystrophy: quantification of muscle weakness and myotonia and the effect of amitriptyline and exercise. (2241546)
1990
50
Myxedema and myotonic dystrophy. (5008040)
1972

Genetic Variations for Myotonic Dystrophy

Expression for genes affiliated with Myotonic Dystrophy

Sources:
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

Sources:
54Reactome, 38NCBI 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

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1magnesium45 11 2412.7CDC42BPB, CDC42BPG, CDC42BPA, ATP2A1, DMPK
2Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate1110.3INSR, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Myotonic Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.9HSPB2, CAPNS1, MBNL1, MBNL2, MTMR1, CDC42BPA
2cell leading edgeGO:03125210.5CDC42BPA, CDC42BPG, CDC42BPB
3actomyosinGO:04264110.3CDC42BPA, CDC42BPB

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myotonic Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet