DM1
MCID: MYT006
MIFTS: 67

Myotonic Dystrophy Type 1 (DM1) malady

Neuronal diseases, Eye diseases categories

Summaries for Myotonic Dystrophy Type 1

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).  myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). symptoms of the mild form are the least severe with a normal life span. the classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. the congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. the condition is inherited in an autosomal dominant pattern and is caused by mutations in the dmpk gene. last updated: 5/11/2011

MalaCards: Myotonic Dystrophy Type 1, also known as steinert myotonic dystrophy, is related to myotonic dystrophy and myotonic dystrophy type 2, and has symptoms including hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana, hydrocephaly and undescended/ectopic testes/cryptorchidia/unfixed testes. An important gene associated with Myotonic Dystrophy Type 1 is DMPK (dystrophia myotonica-protein kinase), and among its related pathways are calcium transport I and Nitric oxide stimulates guanylate cyclase. The compounds 1-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea and act-078573 have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and pancreas, and related mouse phenotype muscle.

Description from OMIM:46 160900

GeneReviews summary for myotonic-d

Aliases & Classifications for Myotonic Dystrophy Type 1

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Sources:
60UMLS, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

myotonic dystrophy type 1 63 19 42 20 48
steinert myotonic dystrophy 42 22 48
dm1 63 42 48
steinert's disease 19 42
steinert disease 42 48
dystrophia myotonica type 1 42
major affective disorder 1 60
dystrophia myotonica 1 60
myotonic dystrophy 1 46
myotonic dystrophy 60
md1 48


External Ids:

ICD10 via Orphanet26 G71.1
SNOMED-CT via Orphanet57 77956009
UMLS via Orphanet61 C2931688
OMIM46 160900
MESH via Orphanet35 C538008

Related Diseases for Myotonic Dystrophy Type 1

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Sources:
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 Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1myotonic dystrophy32.1CELF1, MBNL1, DMWD, DMPK, ATP2A1, MTMR1
2myotonic dystrophy type 231.2CLCN1, CNBP, DMPK
3myotonic disease31.0CLCN1, DMPK
4sleep disorder30.7HCRTR2, HCRTR1, HCRT
5cataract30.5DMPK, CNBP, SIX5
6myopathy30.3DMPK, ATP2A1, CLCN1, RYR1
7muscular dystrophy10.6
8neuropathy10.5
9congenital myotonic dystrophy10.4
10neuronitis10.3
11macular holes10.3
12duchenne muscular dystrophy10.3
13muscular atrophy10.3
14myotonic cataract10.3
15laryngitis10.3
16myasthenia gravis10.3
17peripheral neuropathy10.3
18spinal muscular atrophy10.3
19spinocerebellar ataxia10.3
20thymoma10.3
21polyhydramnios10.3
22corneal dystrophy10.3
23major affective disorder 110.3
24phimosis10.3
25hydrocephalus10.3
26intestinal obstruction10.3
27intestinal pseudo-obstruction10.3
28respiratory failure10.3
29machado-joseph disease10.2
30laryngeal small cell carcinoma10.2
31lateral sclerosis10.2
32erysipelas10.2
33huntington's disease10.2
34cerebritis10.2
35brugada syndrome10.2
36small cell carcinoma10.2
37becker muscular dystrophy10.2
38systolic heart failure10.2
39infertility10.2
40fragile x syndrome10.2
41azoospermia10.2
42cholelithiasis10.2
43alopecia10.2
44amyotrophic lateral sclerosis10.2
45basal cell carcinoma10.2
46congestive heart failure10.2
47hypogonadism10.2
48laryngeal carcinoma10.2
49male infertility10.2
50neuromuscular disease10.2

Graphical network of the top 20 diseases related to Myotonic Dystrophy Type 1:



Diseases related to myotonic dystrophy type 1

Clinical Features for Myotonic Dystrophy Type 1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

160900

Clinical synopsis from OMIM:

160900

Symptoms:

48 (show all 23)
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hydrocephaly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • inguinal/inguinoscrotal/crural hernia
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • hypertonia/spasticity/rigidity/stiffness
  • myotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • autosomal dominant inheritance
  • facial palsy
  • cataract/lens opacification
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • anomalies of the endocrine glands
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • strabismus/squint
  • expressionless face/amimia

Drugs & Therapeutics for Myotonic Dystrophy Type 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Myotonic Dystrophy Type 1

Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy Type 1

Search NIH Clinical Center for Myotonic Dystrophy Type 1

Search CenterWatch for Myotonic Dystrophy Type 1

Genetic Tests for Myotonic Dystrophy Type 1

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20GeneTests, 22GTR
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Genetic tests related to Myotonic Dystrophy Type 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 120 DMPK
2 Steinert Myotonic Dystrophy Syndrome22

Anatomical Context for Myotonic Dystrophy Type 1

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32MalaCards
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MalaCards organs/tissues related to Myotonic Dystrophy Type 1:

32
Heart, Eye, Pancreas, Testes, Skeletal muscle, Brain, Lung, Cerebellum, Smooth muscle, Liver, Thyroid

Animal Models for Myotonic Dystrophy Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1SIX5, DMPK, ATP2A3, ATP2A2, ATP2A1, HCRT

Publications for Myotonic Dystrophy Type 1

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Sources:
50PubMed
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Articles related to Myotonic Dystrophy Type 1:

(show top 50)    (show all 327)
idTitleAuthorsYear
1
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. (24310756)
2013
2
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. (24332166)
2013
3
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. (23806903)
2013
4
Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. (23194837)
2013
5
mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by myotonic dystrophy type 1. (23444380)
2013
6
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. (23828222)
2013
7
Cardiac fibrosis, arrhythmia and sudden death in myotonic dystrophy type 1: could TGF-A91 improve the predictive accuracy of patients at risk, opening new therapeutic challenges? (23931970)
2013
8
Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011. (24011704)
2013
9
Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients. (24289806)
2013
10
Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1. (23834502)
2013
11
Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1. (23159592)
2013
12
Pulmonary thromboembolism in a patient with myotonic dystrophy type 1. (23349604)
2012
13
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
14
Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. (22062891)
2012
15
Abnormal liver function tests in a patient with myotonic dystrophy type 1. (22166572)
2012
16
Cognition and event-related potentials in adult-onset non-demented myotonic dystrophy type 1. (21741303)
2012
17
Concomitant myotonic dystrophy type 1, CIDP-like neuropathy and Hashimoto thyroiditis: a causal link? (22971233)
2012
18
Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study. (22827830)
2012
19
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
20
MRI of tibialis anterior as "surrogate measure" in myotonic dystrophy type 1. (21156423)
2011
21
Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. (21169019)
2011
22
Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1: comment. (20653688)
2011
23
Ventricular dysfunction in type 1 myotonic dystrophy: electrical, mechanical, or both? (19395098)
2010
24
Does Bachmann's bundle pacing prevent atrial fibrillation in myotonic dystrophy type 1 patients? A 12 months follow-up study. (20538830)
2010
25
Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1. (21146669)
2010
26
Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. (20689257)
2010
27
Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. (20884209)
2010
28
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). (20685272)
2010
29
Fluoxetine blocks myotonic runs and reverts abnormal surface electromyogram pattern in patients with myotonic dystrophy type 1. (19667977)
2009
30
Long-term follow-up free of ventricular fibrillation recurrence after resuscitated cardiac arrest in a myotonic dystrophy type 1 patient. (19556250)
2009
31
Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2. (19713112)
2009
32
Fatigue and daytime sleepiness in patients with myotonic dystrophy type 1: to lump or split? (19403309)
2009
33
Arrhythmia exacerbation after sodium channel blockade in myotonic dystrophy type 1. (19623641)
2009
34
Myotonic dystrophy type 1 requires close cardiologic and neurologic surveillance. (19178038)
2008
35
The hypocretin neurotransmission system in myotonic dystrophy type 1. (18195268)
2008
36
Life habits in myotonic dystrophy type 1. (17724556)
2007
37
Recurrent erysipelas in myotonic dystrophy type 1 with IgG deficiency. (17389801)
2007
38
Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. (17192963)
2007
39
Heart rate turbulence as a noninvasive risk predictor of ventricular tachyarrhythmias in myotonic dystrophy type 1. (16903966)
2006
40
Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion. (16421126)
2006
41
Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia). (16713671)
2006
42
Sleep disorders in childhood-onset myotonic dystrophy type 1. (16934465)
2006
43
Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1. (16908743)
2006
44
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). (15792867)
2005
45
Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. (15770673)
2005
46
Psychosocial impact of predictive testing for myotonic dystrophy type 1. (15039975)
2004
47
Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. (15596617)
2004
48
Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. (11807903)
2002
49
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. (11590131)
2001
50
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. (11527424)
2001

Genetic Variations for Myotonic Dystrophy Type 1

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Expression for genes affiliated with Myotonic Dystrophy Type 1

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

Search GEO for disease gene expression data for Myotonic Dystrophy Type 1.

Pathways for genes affiliated with Myotonic Dystrophy Type 1

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN, 49PharmGKB, 12EMD Millipore
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Compounds for genes affiliated with Myotonic Dystrophy Type 1

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28IUPHAR, 59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
11-(2-bromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.5HCRTR2, HCRTR1
2act-0785732810.5HCRTR1, HCRTR2
31-(2,4-dibromo-phenyl)-3-((4s,5s)-2,2-dimethyl-4-phenyl-[1,3]dioxan-5-yl)-urea2810.5HCRTR1, HCRTR2
4[3h]sb-6740422810.5HCRTR2, HCRTR1
5sb-3348672810.5HCRTR2, HCRTR1
6sb-4081242810.5HCRTR2, HCRTR1
7sb-6498682810.5HCRTR1, HCRTR2
8orexin-b2810.5HCRTR2, HCRTR1
9orexin-a2810.5HCRTR2, HCRTR1
10bhq5910.5ATP2A1, ATP2A2, ATP2A3
11[ala11, d-leu15]orexin-b2810.4HCRTR2, HCRTR1
12artemisinin44 5911.4ATP2A3, ATP2A2, ATP2A1
13ochratoxin a44 5911.4ATP2A3, ATP2A2, ATP2A1
14mk-60962810.4HCRTR2, HCRTR1
15suvorexant2810.4HCRTR2, HCRTR1
16ruthenium4410.4HSPA5, ATP2A3, RYR1
17cyclopiazonic acid44 5911.3ATP2A3, ATP2A2, ATP2A1, RYR1
18ryanodine44 28 5912.3RYR1, ATP2A2, ATP2A3, DMPK
19p-mca4410.2RYR1, ATP2A3
20niflumic acid44 28 1112.2RYR1, CLCN1
21halothane44 28 1112.2RYR1, ATP2A1, HSPA5
22dantrolene44 28 1112.1RYR1, ATP2A3
23inositol 1,4,5 trisphosphate4410.1ATP2A3, ATP2A2, HCRTR1, RYR1
24ribonucleic acid4410.0ATP2A2, HCRT, HCRTR1, HCRTR2
25acetylcholine44 49 28 11 2413.9RYR1, HCRTR2, HCRTR1, HCRT, DMPK, KCNN1
26potassium44 11 2411.9KCNN1, ATP2A3, HCRT, HCRTR1, RYR1
27thapsigargin44 5910.9RYR1, HCRTR1, HCRT, ATP2A1, ATP2A2, ATP2A3
28magnesium44 11 2411.8HSPA5, DMPK, ATP2A3, ATP2A2, ATP2A1, RYR1
29atp44 2810.6HSPA5, KCNN1, DMPK, ATP2A3, ATP2A1, HCRT
30glucose449.6HSPA5, DMPK, ATP2A3, HCRT, HCRTR1, RYR1
31norepinephrine44 11 2411.6ATP2A2, HCRT, HCRTR2, RYR1
32calcium44 49 11 2412.3HSPA5, KCNN1, DMPK, ATP2A3, ATP2A2, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy Type 1

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16Gene Ontology
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Cellular components related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:03167410.2RYR1, ATP2A1
2platelet dense tubular network membraneGO:03109510.0ATP2A3, ATP2A2, ATP2A1
3sarcoplasmic reticulumGO:0165299.9ATP2A3, ATP2A2, ATP2A1, RYR1
4sarcoplasmic reticulum membraneGO:0330179.9RYR1, ATP2A1, ATP2A2, ATP2A3, DMPK
5endoplasmic reticulum membraneGO:0057899.5ATP2A1, ATP2A2, ATP2A3, DMPK, HSPA5

Biological processes related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1mRNA splice site selectionGO:00637610.2MBNL1, CELF1
2calcium ion transportGO:00681610.2RYR1, ATP2A1, ATP2A3
3muscle contractionGO:00693610.0RYR1, CLCN1, MYOM1
4neuropeptide signaling pathwayGO:0072189.9HCRT, HCRTR1, HCRTR2
5ion transmembrane transportGO:0342209.9RYR1, CLCN1, ATP2A1, ATP2A2, ATP2A3
6transmembrane transportGO:0550859.9ATP2A3, ATP2A2, ATP2A1, CLCN1, RYR1
7regulation of RNA splicingGO:0434849.9CELF1, MBNL1
8synaptic transmissionGO:0072689.8HCRTR2, HCRTR1, HCRT, KCNN1

Molecular functions related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone bindingGO:01704610.2HCRTR2, HCRTR1
2calcium-transporting ATPase activityGO:00538810.0ATP2A1, ATP2A2, ATP2A3
3orexin receptor activityGO:0164999.9HCRTR2, HCRTR1

Products for genes affiliated with Myotonic Dystrophy Type 1

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  • Antibodies
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Sources for Myotonic Dystrophy Type 1

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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