DM1
MCID: MYT006
MIFTS: 60

Myotonic Dystrophy Type 1 (DM1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases categories
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Summaries for Myotonic Dystrophy Type 1

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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 based summary: Myotonic Dystrophy Type 1, also known as steinert myotonic dystrophy, is related to myotonic dystrophy and myopathy, and has symptoms including expressionless face/amimia, cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Myotonic Dystrophy Type 1 is DMPK (dystrophia myotonica-protein kinase). The compounds acetylcholine and thapsigargin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and smooth muscle, and related mouse phenotype muscle.

Disease Ontology:8 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the dmpk gene containing an expansion of a ctg trinucleotide repeat in the non-coding region.

Description from OMIM:46 160900

GeneReviews summary for myotonic-d

Aliases & Classifications for Myotonic Dystrophy Type 1

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Myotonic Dystrophy Type 1, Aliases & Descriptions:

Name: Myotonic Dystrophy Type 1 8 65 19 42 48
Steinert Myotonic Dystrophy 42 22 48 62
Myotonic Dystrophy 1 9 20 46 62
Steinert Disease 8 42 48
Dm1 65 42 48
Congenital Myotonic Dystrophy 8 42
Dystrophia Myotonica 8 62
Steinert's Disease 19 42
 
Myotonic Dystrophy, Congenital 62
Myotonic Dystrophy of Steinert 8
Myotonic Dystrophy Congenital 44
Dystrophia Myotonica Type 1 42
Major Affective Disorder 1 62
Myotonic Dystrophy 62
Md1 48


Classifications:



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


External Ids:

Disease Ontology8 DOID:11722
NCIt39 C84914
OMIM46 160900
ICD9CM27 359.22
MeSH34 D009223
MESH via Orphanet35 C538008
ICD10 via Orphanet26 G71.1
UMLS via Orphanet63 C2931688

Related Diseases for Myotonic Dystrophy Type 1

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



Diseases related to myotonic dystrophy type 1

Symptoms for Myotonic Dystrophy Type 1

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Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Symptoms:

48 (show all 23)
  • expressionless face/amimia
  • 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
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • inguinal/inguinoscrotal/crural hernia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrocephaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Myotonic Dystrophy Type 1:

(show all 44)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 hypertonia hallmark (90%) HP:0001276
3 myotonia hallmark (90%) HP:0002486
4 amyotrophy hallmark (90%) HP:0003202
5 emg abnormality hallmark (90%) HP:0003457
6 arrhythmia hallmark (90%) HP:0011675
7 cataract typical (50%) HP:0000518
8 abnormality of the endocrine system typical (50%) HP:0000818
9 muscular hypotonia typical (50%) HP:0001252
10 respiratory insufficiency typical (50%) HP:0002093
11 malformation of the heart and great vessels typical (50%) HP:0002564
12 facial palsy typical (50%) HP:0010628
13 cognitive impairment typical (50%) HP:0100543
14 cryptorchidism occasional (7.5%) HP:0000028
15 hydrocephalus occasional (7.5%) HP:0000238
16 strabismus occasional (7.5%) HP:0000486
17 abnormality of the hip bone occasional (7.5%) HP:0003272
18 hernia of the abdominal wall occasional (7.5%) HP:0004299
19 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
20 abnormal hair quantity occasional (7.5%) HP:0011362
21 non-midline cleft lip occasional (7.5%) HP:0100335
22 atrial flutter 4% HP:0004749
23 atrial fibrillation very rare (1%) HP:0005110
24 autosomal dominant inheritance HP:0000006
25 testicular atrophy HP:0000029
26 hypogonadism HP:0000135
27 cataract HP:0000518
28 cholelithiasis HP:0001081
29 muscular hypotonia HP:0001252
30 muscle weakness HP:0001324
31 facial diplegia HP:0001349
32 decreased fetal movement HP:0001558
33 polyhydramnios HP:0001561
34 dysphagia HP:0002015
35 cerebral atrophy HP:0002059
36 respiratory distress HP:0002098
37 excessive daytime sleepiness HP:0002189
38 frontal balding HP:0002292
39 myotonia HP:0002486
40 intellectual disability, progressive HP:0006887
41 obsessive-compulsive trait HP:0008770
42 feeding difficulties in infancy HP:0008872
43 intellectual disability, severe HP:0010864
44 first degree atrioventricular block HP:0011705

Drugs & Therapeutics for Myotonic Dystrophy Type 1

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Drug clinical trials:

Search ClinicalTrials for Myotonic Dystrophy Type 1

Search NIH Clinical Center for Myotonic Dystrophy Type 1

Genetic Tests for Myotonic Dystrophy Type 1

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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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MalaCards organs/tissues related to Myotonic Dystrophy Type 1:

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

Animal Models for Myotonic Dystrophy Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4MBNL1, SIX5, ATP2A1, DMPK

Publications for Myotonic Dystrophy Type 1

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Articles related to Myotonic Dystrophy Type 1:

(show top 50)    (show all 330)
idTitleAuthorsYear
1
Transcranial sonography in patients with myotonic dystrophy type 1. (24395217)
2014
2
Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES). (25264166)
2014
3
Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1. (25239918)
2014
4
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. (24310756)
2013
5
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. (24332166)
2013
6
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1. (24139022)
2013
7
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. (23042586)
2013
8
Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". (23276392)
2013
9
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. (23806903)
2013
10
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1. (23786791)
2013
11
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. (23803495)
2013
12
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. (23729582)
2013
13
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
14
Pulmonary thromboembolism in a patient with myotonic dystrophy type 1. (23349604)
2012
15
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
16
Central and peripheral components of exercise-related fatigability in myotonic dystrophy type 1. (22188374)
2012
17
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. (21777352)
2011
18
Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 A9 1 nucleotide UU internal loop conformations. (21988728)
2011
19
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (21263144)
2011
20
Functioning and disability in adults with myotonic dystrophy type 1. (21254917)
2011
21
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
22
A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1). (21592796)
2011
23
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. (19903450)
2010
24
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (20439846)
2010
25
Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1. (19750543)
2010
26
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. (19627641)
2010
27
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. (20487562)
2010
28
Fluoxetine blocks myotonic runs and reverts abnormal surface electromyogram pattern in patients with myotonic dystrophy type 1. (19667977)
2009
29
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. (19321466)
2009
30
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms. (19459914)
2009
31
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. (18565861)
2008
32
Myotonic dystrophy type 1 requires close cardiologic and neurologic surveillance. (19178038)
2008
33
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
34
Towards an integrative approach to the management of myotonic dystrophy type 1. (17449544)
2007
35
Eye movement disorders in myotonic dystrophy type 1. (18340575)
2007
36
Myotonic dystrophies type 1 and 2: a summary on current aspects. (17027856)
2006
37
Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). (16696870)
2006
38
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. (16723374)
2006
39
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
40
Aerobic training in patients with myotonic dystrophy type 1. (15852373)
2005
41
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). (15792867)
2005
42
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. (16193250)
2005
43
Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1. (15277156)
2004
44
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. (15557517)
2004
45
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. (14745066)
2004
46
Psychosocial impact of predictive testing for myotonic dystrophy type 1. (15039975)
2004
47
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (14526184)
2003
48
Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1. (14627806)
2003
49
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)
2002
50
Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. (12031621)
2002

Variations for Myotonic Dystrophy Type 1

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Clinvar genetic disease variations for Myotonic Dystrophy Type 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1DMPKNM_001081560.2: c.*224_*226CTG(51_?)NT expansionPathogenicGRCh37Chr 19, 46273463: 46273522
2DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenic

Expression for genes affiliated with Myotonic Dystrophy Type 1

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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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Compounds for genes affiliated with Myotonic Dystrophy Type 1

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Compounds related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 50 28 24 1113.2HCRTR1, DMPK
2thapsigargin44 619.8HCRTR1, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy Type 1

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

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:0330179.5ATP2A1, DMPK

Products for genes affiliated with Myotonic Dystrophy Type 1

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet