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 small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia, anomalies of the endocrine glands and lateral cleft lip/gingival cleft/paramedian nasal cleft. 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:
63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 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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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)
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • anomalies of the endocrine glands
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • expressionless face/amimia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • facial palsy
  • autosomal dominant inheritance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hydrocephaly
  • hypotonia
  • cataract/lens opacification
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • myotonia
  • congenital cardiac anomaly/malformation/cardiopathy
  • strabismus/squint
  • hypertonia/spasticity/rigidity/stiffness

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, Thyroid, Liver, Smooth muscle

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
Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1. (24291332)
2014
2
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. (23042586)
2013
3
Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". (23276392)
2013
4
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. (23803495)
2013
5
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. (23466272)
2013
6
Prolonged Corrected QT Interval in Patients with Myotonic Dystrophy Type 1. (23894242)
2013
7
Vitamin D deficiency in myotonic dystrophy type 1. (23754696)
2013
8
Two is better than one: a case of homozygous myotonic dystrophy type 1. (23704040)
2013
9
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
10
Early onset "electrical" heart failure in myotonic dystrophy type 1 patient: the role of ICD biventricular pacing. (22728727)
2012
11
Magnetic resonance imaging findings in adult-form myotonic dystrophy type 1. (22815033)
2012
12
A role for PLCI^1 in myotonic dystrophies type 1 and 2. (22459146)
2012
13
Two high-throughput screening assays for aberrant RNA-protein interactions in myotonic dystrophy type 1. (22218462)
2012
14
Gait abnormalities in type 1 myotonic muscular dystrophy: 3D motion analysis, energy cost and surface EMG. (23009467)
2012
15
Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). (22786587)
2012
16
Cardiac manifestations of myotonic dystrophy type 1. (21917328)
2012
17
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (21263144)
2011
18
Facial emotion recognition and cerebral white matter lesions in myotonic dystrophy type 1. (20006353)
2010
19
Toward understanding cognitive impairment in patients with myotonic dystrophy type 1. (20237049)
2010
20
Leptin and the metabolic syndrome in patients with myotonic dystrophy type 1. (19804472)
2010
21
Visual function in congenital and childhood myotonic dystrophy type 1. (20346513)
2010
22
Muscle MRI in myotonic dystrophy type 1 with foot drop. (20134167)
2010
23
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. (18228241)
2008
24
Asymptomatic, nonsustained ventricular tachycardia in myotonic dystrophy type 1 detected with a loop recorder. (18552501)
2008
25
Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia. (18772697)
2008
26
Dehydroepiandrosterone for myotonic dystrophy type 1. (18678823)
2008
27
A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. (18653337)
2008
28
Eye movement disorders in myotonic dystrophy type 1. (18340575)
2007
29
Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1. (17306536)
2007
30
Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. (17661063)
2007
31
Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. (17487865)
2007
32
Cognitive profile in childhood myotonic dystrophy type 1: is there a global impairment? (17433680)
2007
33
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. (17154336)
2007
34
Myotonic dystrophies type 1 and 2: a summary on current aspects. (17027856)
2006
35
Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. (16702085)
2006
36
Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1. (16642499)
2006
37
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. (16193250)
2005
38
Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling]. (15824798)
2005
39
Noncompaction in myotonic dystrophy type 1 on cardiac MRI. (15785023)
2005
40
Dropped head presentation in myotonic dystrophy type 1. (16010083)
2005
41
Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1. (15277156)
2004
42
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. (15079005)
2004
43
Bilateral extraocular muscle atrophy in myotonic dystrophy type 1. (15326270)
2004
44
Transgenic mouse models for myotonic dystrophy type 1 (DM1). (14526185)
2003
45
Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. (12169228)
2002
46
Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. (12325072)
2002
47
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. (12150906)
2002
48
"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). (11285251)
2001
49
Frequency and stability of the myotonic dystrophy type 1 premutation. (11171897)
2001
50
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. (10878662)
2000

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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Sources:
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