DM1
MCID: MYT006
MIFTS: 57

Myotonic Dystrophy Type 1 (DM1) malady

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

Summaries for Myotonic Dystrophy Type 1

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44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 cataract, 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). The compounds acetylcholine and thapsigargin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and pancreas, and related mouse phenotype muscle.

Description from OMIM:48 160900

GeneReviews summary for myotonic-d

Aliases & Classifications for Myotonic Dystrophy Type 1

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Sources:
63UMLS, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 50Orphanet, 23GTR, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 66 20 44 21 50
steinert myotonic dystrophy 44 23 50
dm1 66 44 50
steinert's disease 20 44
steinert disease 44 50
dystrophia myotonica type 1 44
major affective disorder 1 63
dystrophia myotonica 1 63
myotonic dystrophy 1 48
myotonic dystrophy 63
md1 50


External Ids:

ICD10 via Orphanet27 G71.1
SNOMED-CT via Orphanet60 77956009
UMLS via Orphanet64 C2931688
OMIM48 160900
MESH via Orphanet37 C538008

Related Diseases for Myotonic Dystrophy Type 1

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

160900

Clinical features from OMIM:

160900

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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21GeneTests, 23GTR
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Genetic tests related to Myotonic Dystrophy Type 1:

id Genetic test Affiliating Genes
1 Myotonic Dystrophy Type 121 DMPK
2 Steinert Myotonic Dystrophy Syndrome23

Anatomical Context for Myotonic Dystrophy Type 1

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34MalaCards
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MalaCards organs/tissues related to Myotonic Dystrophy Type 1:

34
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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38MGI
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MGI Mouse Phenotypes related to Myotonic Dystrophy Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4MBNL1, SIX5, ATP2A1, DMPK

Publications for Myotonic Dystrophy Type 1

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53PubMed
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Articles related to Myotonic Dystrophy Type 1:

(show top 50)    (show all 309)
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
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. (24332166)
2013
4
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1. (24139022)
2013
5
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. (23042586)
2013
6
Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". (23276392)
2013
7
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. (23806903)
2013
8
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1. (23786791)
2013
9
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. (23803495)
2013
10
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. (23729582)
2013
11
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
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
Central and peripheral components of exercise-related fatigability in myotonic dystrophy type 1. (22188374)
2012
15
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. (21777352)
2011
16
Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 A9 1 nucleotide UU internal loop conformations. (21988728)
2011
17
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (21263144)
2011
18
Functioning and disability in adults with myotonic dystrophy type 1. (21254917)
2011
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
A new window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1). (21592796)
2011
21
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. (19903450)
2010
22
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. (20439846)
2010
23
Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1. (19750543)
2010
24
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. (19627641)
2010
25
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. (20487562)
2010
26
Fluoxetine blocks myotonic runs and reverts abnormal surface electromyogram pattern in patients with myotonic dystrophy type 1. (19667977)
2009
27
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. (19321466)
2009
28
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms. (19459914)
2009
29
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. (18565861)
2008
30
Myotonic dystrophy type 1 requires close cardiologic and neurologic surveillance. (19178038)
2008
31
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
32
Towards an integrative approach to the management of myotonic dystrophy type 1. (17449544)
2007
33
Eye movement disorders in myotonic dystrophy type 1. (18340575)
2007
34
Myotonic dystrophies type 1 and 2: a summary on current aspects. (17027856)
2006
35
Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). (16696870)
2006
36
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. (16723374)
2006
37
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
38
Aerobic training in patients with myotonic dystrophy type 1. (15852373)
2005
39
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). (15792867)
2005
40
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. (16193250)
2005
41
Postabsorptive and insulin-stimulated energy and protein metabolism in patients with myotonic dystrophy type 1. (15277156)
2004
42
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. (15557517)
2004
43
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. (14745066)
2004
44
Psychosocial impact of predictive testing for myotonic dystrophy type 1. (15039975)
2004
45
Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1. (14694498)
2004
46
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1. (14526184)
2003
47
Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1. (14627806)
2003
48
Genetic study of somatic mosaicism in a patient with myotonic dystrophy type 1: case report. (15088500)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myotonic Dystrophy Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1DMPKNM_001081560.2: c.*224_*226CTG(51_?)NT expansionPathogenic/card/myotonic_dystrophy_type_1GRCh37Chr 19, 46273463: 46273522
2DMPKNM_001081563.1: c.*224_226CTG(50-?)undetermined variantPathogenic/card/myotonic_dystrophy_type_1

Expression for genes affiliated with Myotonic Dystrophy Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myotonic Dystrophy Type 1

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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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46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Myotonic Dystrophy Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine46 52 30 25 1213.2HCRTR1, DMPK
2thapsigargin46 629.8HCRTR1, ATP2A1

GO Terms for genes affiliated with Myotonic Dystrophy Type 1

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17Gene Ontology
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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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  • Antibodies
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Sources for Myotonic Dystrophy Type 1

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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