DM1
MCID: MYT021
MIFTS: 66

Myotonic Dystrophy 1 (DM1)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Myotonic Dystrophy 1

MalaCards integrated aliases for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 56 73 13 37 71
Myotonic Dystrophy Type 1 12 24 52 58 15
Steinert Disease 56 12 52 58 73
Dystrophia Myotonica 56 12 74 73
Dm1 56 52 58 73
Congenital Myotonic Dystrophy 12 52 71
Steinert Myotonic Dystrophy 52 58 73
Steinert Myotonic Dystrophy Syndrome 29 6
Dystrophia Myotonica 1 56 73
Myotonic Dystrophy 43 71
Steinert's Disease 24 52
Dm 56 73
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 54
Dystrophia Myotonica Type 1 52
Dystrophy, Myotonic, Type 1 39
Dystrophia Myotonica; Dm 56
Md1 58

Characteristics:

Orphanet epidemiological data:

58
steinert myotonic dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (United Kingdom),1-5/10000 (Iceland),1-9/100000 (Serbia),1-9/100000 (Japan),1-9/1000000 (Taiwan, Province of China),1-5/10000 (South Africa),6-9/10000,>1/1000,1-9/1000000 (Serbia),1-9/100000 (Italy),1-5/10000 (Ireland),1-5/10000,1-9/100000,1-5/10000 (Croatia); Age of onset: Adult,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation occurs
prevalence of in 1 in 8,000
normal - 5 to 37 copies of (ctg)n repeat in dmpk
affected, mild - 50-150 repeats
adult onset - 100-1,000 repeats
congenital - over 2,000 repeats
negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)


HPO:

31
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is high (nearly 100% by age 50 years) when all manifestations of the disease, even those that are subtle, are sought. however, mild cases (e.g., persons with only cataracts) may be missed [moxley & meola 2008].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Myotonic Dystrophy 1

NIH Rare Diseases : 52 Myotonic dystrophy type 1 (MD1), 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, endocrine system , and central nervous system ). MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form has the least severe symptoms of the different forms of MD1 and is associated 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 with the classic form may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakness at birth (hypotonia ) , often causing complications with breathing and early death. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene . Treatment is based on the signs and symptoms present.

MalaCards based summary : Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy and myotonia congenita, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways is Adipogenesis. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and thyroid, and related phenotypes are hypertonia and intellectual disability, severe

Disease Ontology : 12 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 material basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

OMIM : 56 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). (160900)

UniProtKB/Swiss-Prot : 73 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

Wikipedia : 74 Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Symptoms include... more...

GeneReviews: NBK1165

Related Diseases for Myotonic Dystrophy 1

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 826)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 32.0 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
2 myotonia congenita 31.2 DMPK CNBP CLCN1 CCT3
3 myotonia 30.6 DMPK CNBP CLCN1
4 fuchs' endothelial dystrophy 30.3 MBNL2 MBNL1 DMPK
5 myotonic dystrophy 2 30.3 YIPF7 SIX5 MBNL3 MBNL2 MBNL1 DMPK
6 muscular dystrophy 29.9 MBNL1 DMPK CLCN1 CELF1 ATP2A1
7 hyperkalemic periodic paralysis 29.8 DMPK CNBP CLCN1 CCT3
8 neuromuscular disease 29.7 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
9 cataract 29.6 SIX5 MBNL1 ERCC6 DMPK CNBP
10 huntington disease-like 2 29.6 MBNL1 DMPK CNBP CELF1 CCT3 ATXN10
11 fragile x-associated tremor/ataxia syndrome 29.4 MBNL1 DMPK CNBP CELF1 C9orf72 ATXN10
12 spinocerebellar ataxia 8 29.4 MBNL1 DMPK CNBP CELF1 CCT3 C9orf72
13 autosomal dominant cerebellar ataxia 29.0 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
14 muscular disease 28.4 MIR33A MBNL2 MBNL1 ERCC6 DMPK CNBP
15 myotonic disease 26.7 YIPF7 SIX5 MIR33A MBNL3 MBNL2 MBNL1
16 epidermolysis bullosa simplex, dowling-meara type 12.0
17 childhood type dermatomyositis 11.7
18 myotonic cataract 11.6
19 nondystrophic myotonia 11.6
20 maturity-onset diabetes of the young 11.6
21 diabetes insipidus 11.6
22 diabetes mellitus, insulin-dependent 11.5
23 neonatal dermatomyositis 11.5
24 dermatomyositis 11.5
25 major affective disorder 1 11.4
26 floppy infant syndrome 11.3
27 infantile hypotonia 11.3
28 corneal dystrophy, posterior polymorphous, 1 11.3
29 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.2
30 diffuse mesangial sclerosis 11.2
31 epidermolysis bullosa simplex, ogna type 11.1
32 denys-drash syndrome 11.1
33 nephrotic syndrome, type 4 11.1
34 epidermolysis bullosa simplex with migratory circinate erythema 11.1
35 nephrotic syndrome, type 3 11.1
36 wolfram syndrome 11.1
37 hypogonadotropic hypogonadism 10.4
38 progressive familial heart block, type ia 10.4
39 narcolepsy 10.4
40 sensory peripheral neuropathy 10.4
41 dysphagia 10.3
42 hyperthyroidism 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 atrial fibrillation 10.3
45 left bundle branch hemiblock 10.3
46 mammary paget's disease 10.3
47 adenoma 10.3
48 myocarditis 10.3
49 neuropathy 10.3
50 hypersomnia 10.3

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



Diseases related to Myotonic Dystrophy 1

Symptoms & Phenotypes for Myotonic Dystrophy 1

Human phenotypes related to Myotonic Dystrophy 1:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
4 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
7 first degree atrioventricular block 58 31 hallmark (90%) Very frequent (99-80%) HP:0011705
8 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
9 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
10 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
11 abnormality of the endocrine system 58 31 frequent (33%) Frequent (79-30%) HP:0000818
12 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
13 testicular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000029
14 intellectual disability, progressive 58 31 frequent (33%) Frequent (79-30%) HP:0006887
15 abnormal hair quantity 58 31 frequent (33%) Frequent (79-30%) HP:0011362
16 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
21 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
22 abnormality of the upper urinary tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010935
23 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
24 atrial fibrillation 31 very rare (1%) HP:0005110
25 atrial flutter 31 very rare (1%) HP:0004749
26 dysphagia 31 HP:0002015
27 muscle weakness 31 HP:0001324
28 feeding difficulties in infancy 31 HP:0008872
29 polyhydramnios 31 HP:0001561
30 generalized hypotonia 31 HP:0001290
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 cholelithiasis 31 HP:0001081
33 hypogonadism 31 HP:0000135
34 decreased fetal movement 31 HP:0001558
35 excessive daytime sleepiness 31 HP:0002189
36 facial diplegia 31 HP:0001349
37 cerebral atrophy 31 HP:0002059
38 obsessive-compulsive trait 31 HP:0008770
39 frontal balding 31 HP:0002292

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Cardiovascular Heart:
heart block
atrial arrhythmias
ekg abnormalities

Genitourinary Internal Genitalia Male:
hypogonadism
testicular atrophy

Muscle Soft Tissue:
weakness
myotonia (delayed muscle relaxation after contraction)
electromyography shows myotonic discharges
wasting, especially temporal, neck, and facial muscles
respiratory distress (congenital form)
more
Skin Nails Hair Hair:
frontal balding (male pattern baldness)

Prenatal Manifestations Movement:
reduced fetal movements (congenital form)

Head And Neck Eyes:
cataract

Abdomen Biliary Tract:
cholelithiasis

Neurologic Central Nervous System:
excessive daytime sleepiness
cerebral atrophy
mild cognitive deterioration in adults
speech disability
reduced sleep latency
more
Genitourinary Internal Genitalia Female:
uncoordinated uterine contraction

Neurologic Behavioral Psychiatric Manifestations:
avoidant personality traits
obsessive-compulsive traits
passive-aggressive traits

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (congenital form)

Clinical features from OMIM:

160900

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ATP2A1 CLCN1 DMPK ERCC6 MBNL1 MBNL2

Drugs & Therapeutics for Myotonic Dystrophy 1

Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
6 Dopamine Uptake Inhibitors Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Dopamine Agents Phase 2, Phase 3
9 Sodium Channel Blockers Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Tranquilizing Agents Phase 3
12 Antipsychotic Agents Phase 3
13 Psychotropic Drugs Phase 3
14 Anticonvulsants Phase 3
15 Calcium, Dietary Phase 3
16 calcium channel blockers Phase 3
17 Central Nervous System Depressants Phase 3
18 Hormones Phase 3
19 Adjuvants, Immunologic Phase 2, Phase 3
20 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22
Zinc Approved, Investigational Phase 2 7440-66-6 32051
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
25
Clarithromycin Approved Phase 2 81103-11-9 84029
26 Hypoglycemic Agents Phase 2
27 Complement Factor I Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Mitogens Phase 1, Phase 2
30 insulin Phase 1, Phase 2
31 Insulin, Globin Zinc Phase 1, Phase 2
32 Anti-Infective Agents Phase 2
33 Cytochrome P-450 CYP3A Inhibitors Phase 2
34 Cytochrome P-450 Enzyme Inhibitors Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antibiotics, Antitubercular Phase 2
37
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
38
Modafinil Approved, Investigational 68693-11-8 4236
39
Fibrinolysin Investigational 9004-09-5
40 Immunoglobulins
41 Antibodies
42 Antibodies, Antinuclear
43 Plasminogen Activator Inhibitor 1
44 Hemostatics
45 Liver Extracts
46 Plasminogen Inactivators
47 Lupus Coagulation Inhibitor
48 alpha-2-Antiplasmin
49 Anticoagulants
50 Plasminogen

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
2 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
3 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
6 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
8 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
9 A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
10 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
11 A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
12 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
13 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
14 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
17 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
18 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
19 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
20 Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders Unknown status NCT02833168
21 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
22 NON-INVASIVE PRENATAL TESTING (NIPT) OF FETAL SINGLE-GENE DISORDERS IN MATERNAL BLOOD Unknown status NCT02339402
23 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
24 Effects of a Multiple Component Training Program on Muscles, Maximal Muscle Strength, Endurance and Functional Performance in Adults With Myotonic Dystrophy Type 1: A Pilot Study Completed NCT04001920
25 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
26 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
27 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
28 Prospective Randomized Controlled Single Blind Study of Efficacy and Tolerance of AVAPS Mode Compared to Bilevel Pressure Ventilation un Adult Patients With Myotonic Dystrophy Completed NCT01530841
29 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
30 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
32 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
33 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
34 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
35 Pulmonary Hypertension--Mechanisms and Family Registry Completed NCT00005357
36 Repolarization Disorders and Heart Conduction Disorders in Patients With Systemic Lupus Erythematous Completed NCT02162992
37 Development of a New Scale of Quality of Life, Specific of Neuro Muscular Diseases and More Specifically of Steinert Disease, by the Rasch Model Methods. Completed NCT02895763
38 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
39 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
40 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
41 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Recruiting NCT03981575
42 The Electrophysiological Study Guided ICD Strategy in Prevention of Arrhythmic Cardiac Death in Myotonic Dystrophy Type 1 Patients With Conduction System Disease (ACADEMY 1 Study) Recruiting NCT03784586
43 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
44 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Recruiting NCT03087526
45 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Recruiting NCT04187482
46 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
47 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Recruiting NCT03603171
48 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
49 Myotonic Dystrophy Family Registry Recruiting NCT02398786
50 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108

Search NIH Clinical Center for Myotonic Dystrophy 1

Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

Genetic tests related to Myotonic Dystrophy 1:

# Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome 29 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

40
Heart, Skeletal Muscle, Thyroid, Brain, Lung, Eye, Smooth Muscle

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(show top 50) (show all 525)
# Title Authors PMID Year
1
Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. 54 24 56
11807903 2002
2
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. 56 6
8595416 1995
3
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 24 56
20439846 2010
4
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. 24 56
16636244 2006
5
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. 24 56
15883838 2005
6
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. 24 56
15079005 2004
7
A muscleblind knockout model for myotonic dystrophy. 24 56
14671308 2003
8
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. 24 56
12150905 2002
9
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. 24 56
11528389 2001
10
Frequency and stability of the myotonic dystrophy type 1 premutation. 24 56
11171897 2001
11
Personality patterns in patients with myotonic dystrophy. 24 56
9605719 1998
12
Patients with primary cataract as a genetic pool of DMPK protomutation. 61 56
17146587 2007
13
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. 61 56
16301494 2005
14
Six5 is required for spermatogenic cell survival and spermiogenesis. 61 56
15163633 2004
15
[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)]. 61 56
3411303 1988
16
RNA phase transitions in repeat expansion disorders. 56
28562589 2017
17
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. 56
28257691 2017
18
Myotonic dystrophies type 1 and 2: anesthetic care. 61 24
23384336 2013
19
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. 56
22859208 2012
20
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. 56
22140091 2012
21
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues. 56
21872659 2012
22
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 56
21364698 2011
23
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. 56
21623381 2011
24
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. 56
20644219 2010
25
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. 56
20603324 2010
26
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. 56
20051426 2010
27
Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1. 56
20018643 2009
28
Neuroimaging in myotonic dystrophy type 1. 56
19949042 2009
29
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. 56
19667189 2009
30
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. 56
19608921 2009
31
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. 56
19514047 2009
32
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. 56
19223393 2009
33
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. 56
18611984 2008
34
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. 56
18565861 2008
35
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. 56
18299519 2008
36
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. 56
18084293 2008
37
The hypocretin neurotransmission system in myotonic dystrophy type 1. 56
18195268 2008
38
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. 56
17728322 2007
39
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. 56
18008009 2007
40
DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans. 56
17877752 2007
41
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. 56
17823658 2007
42
Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. 56
17663477 2007
43
Cardiovascular manifestations of myotonic dystrophy-1. 61 24
17575483 2007
44
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. 56
16927100 2006
45
Reversal of fortune. 56
16941004 2006
46
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. 56
16878132 2006
47
Pilomatricoma in childhood: a retrospective study from three European paediatric centres. 61 24
16041525 2005
48
Myotonic dystrophy. 56
16087777 2005
49
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. 56
15972723 2005
50
Aerobic training in patients with myotonic dystrophy type 1. 56
15852373 2005

Variations for Myotonic Dystrophy 1

ClinVar genetic disease variations for Myotonic Dystrophy 1:

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMPK NM_004409.5(DMPK):c.*224_*226CTG[102]short repeat Pathogenic 187907 19:46273462-46273463 19:45770204-45770205
2 DMPK NM_004409.5(DMPK):c.*224_*226CTG[103]short repeat Pathogenic 187908 19:46273462-46273463 19:45770204-45770205
3 DMPK NM_004409.5(DMPK):c.*224_*226CTG[107]short repeat Pathogenic 187909 19:46273462-46273463 19:45770204-45770205
4 DMPK NM_004409.5(DMPK):c.*224_*226CTG[1080]short repeat Pathogenic 187910 19:46273462-46273463 19:45770204-45770205
5 DMPK NM_004409.5(DMPK):c.*224_*226CTG[1140]short repeat Pathogenic 187911 19:46273462-46273463 19:45770204-45770205
6 DMPK NM_004409.4(DMPK):c.*224CTG[1502]NT expansion Pathogenic 187925 19:46273463-46273463 19:45770205-45770205
7 DMPK NM_004409.5(DMPK):c.*224_*226CTG[1142]short repeat Pathogenic 187912 19:46273462-46273463 19:45770204-45770205
8 DMPK NM_004409.5(DMPK):c.*224_*226CTG[1189]short repeat Pathogenic 187913 19:46273462-46273463 19:45770204-45770205
9 DMPK NM_004409.5(DMPK):c.*224_*226CTG[122]short repeat Pathogenic 187914 19:46273462-46273463 19:45770204-45770205
10 DMPK NM_004409.5(DMPK):c.*224_*226CTG[1236]short repeat Pathogenic 187916 19:46273462-46273463 19:45770204-45770205
11 DMPK NM_004409.5(DMPK):c.*224_*226CTG[127]short repeat Pathogenic 187918 19:46273462-46273463 19:45770204-45770205
12 DMPK NM_004409.5(DMPK):c.*224_*226CTG[131]short repeat Pathogenic 187919 19:46273462-46273463 19:45770204-45770205
13 DMPK NM_004409.5(DMPK):c.*224_*226CTG[123]short repeat Pathogenic 187915 19:46273462-46273463 19:45770204-45770205
14 DMPK NM_004409.5(DMPK):c.*224_*226CTG[124]short repeat Pathogenic 187917 19:46273462-46273463 19:45770204-45770205
15 DMPK NM_004409.5(DMPK):c.*224_*226CTG[132]short repeat Pathogenic 187920 19:46273462-46273463 19:45770204-45770205
16 DMPK NM_004409.5(DMPK):c.*224_*226CTG[134]short repeat Pathogenic 187921 19:46273462-46273463 19:45770204-45770205
17 DMPK NM_004409.5(DMPK):c.*224_*226CTG[135]short repeat Pathogenic 187922 19:46273462-46273463 19:45770204-45770205
18 DMPK NM_004409.5(DMPK):c.*224_*226CTG[142]short repeat Pathogenic 187923 19:46273462-46273463 19:45770204-45770205
19 DMPK NM_004409.4(DMPK):c.*224CTG[146]short repeat Pathogenic 187924 19:46273462-46273463 19:45770204-45770205
20 DMPK NM_004409.5(DMPK):c.*224_*226CTG[158]short repeat Pathogenic 187926 19:46273462-46273463 19:45770204-45770205
21 DMPK NM_004409.5(DMPK):c.*224_*226CTG[160]short repeat Pathogenic 187927 19:46273462-46273463 19:45770204-45770205
22 DMPK NM_004409.4(DMPK):c.*224CTG[1681]NT expansion Pathogenic 187929 19:46273463-46273463 19:45770205-45770205
23 DMPK NM_004409.5(DMPK):c.*224_*226CTG[168]short repeat Pathogenic 187928 19:46273462-46273463 19:45770204-45770205
24 DMPK NM_004409.5(DMPK):c.*224_*226CTG[169]short repeat Pathogenic 187930 19:46273462-46273463 19:45770204-45770205
25 DMPK NM_004409.5(DMPK):c.*224_*226CTG[175]short repeat Pathogenic 187931 19:46273462-46273463 19:45770204-45770205
26 DMPK NM_004409.5(DMPK):c.*224_*226CTG[181]short repeat Pathogenic 187932 19:46273462-46273463 19:45770204-45770205
27 DMPK NM_004409.5(DMPK):c.*224_*226CTG[182]short repeat Pathogenic 187933 19:46273462-46273463 19:45770204-45770205
28 DMPK NM_004409.5(DMPK):c.*224_*226CTG[194]short repeat Pathogenic 187934 19:46273462-46273463 19:45770204-45770205
29 DMPK NM_004409.5(DMPK):c.*224_*226CTG[195]short repeat Pathogenic 187935 19:46273462-46273463 19:45770204-45770205
30 DMPK NM_004409.5(DMPK):c.*224_*226CTG[197]short repeat Pathogenic 187936 19:46273462-46273463 19:45770204-45770205
31 DMPK NM_004409.5(DMPK):c.*224_*226CTG[214]short repeat Pathogenic 187937 19:46273462-46273463 19:45770204-45770205
32 DMPK NM_004409.5(DMPK):c.*224_*226CTG[216]short repeat Pathogenic 187938 19:46273462-46273463 19:45770204-45770205
33 DMPK NM_004409.5(DMPK):c.*224_*226CTG[225]short repeat Pathogenic 187939 19:46273462-46273463 19:45770204-45770205
34 DMPK NM_004409.5(DMPK):c.*224_*226CTG[229]short repeat Pathogenic 187940 19:46273462-46273463 19:45770204-45770205
35 DMPK NM_004409.5(DMPK):c.*224_*226CTG[232]short repeat Pathogenic 187941 19:46273462-46273463 19:45770204-45770205
36 DMPK NM_004409.5(DMPK):c.*224_*226CTG[235]short repeat Pathogenic 187942 19:46273462-46273463 19:45770204-45770205
37 DMPK NM_004409.5(DMPK):c.*224_*226CTG[236]short repeat Pathogenic 187943 19:46273462-46273463 19:45770204-45770205
38 DMPK NM_004409.5(DMPK):c.*224_*226CTG[238]short repeat Pathogenic 187944 19:46273462-46273463 19:45770204-45770205
39 DMPK NM_004409.5(DMPK):c.*224_*226CTG[241]short repeat Pathogenic 187945 19:46273462-46273463 19:45770204-45770205
40 DMPK NM_004409.5(DMPK):c.*224_*226CTG[255]short repeat Pathogenic 187946 19:46273462-46273463 19:45770204-45770205
41 DMPK NM_004409.5(DMPK):c.*224_*226CTG[256]short repeat Pathogenic 187947 19:46273462-46273463 19:45770204-45770205
42 DMPK NM_004409.5(DMPK):c.*224_*226CTG[260]short repeat Pathogenic 187948 19:46273462-46273463 19:45770204-45770205
43 DMPK NM_004409.5(DMPK):c.*224_*226CTG[261]short repeat Pathogenic 187949 19:46273462-46273463 19:45770204-45770205
44 DMPK NM_004409.5(DMPK):c.*224_*226CTG[264]short repeat Pathogenic 187950 19:46273462-46273463 19:45770204-45770205
45 DMPK NM_004409.5(DMPK):c.*224_*226CTG[265]short repeat Pathogenic 187951 19:46273462-46273463 19:45770204-45770205
46 DMPK NM_004409.5(DMPK):c.*224_*226CTG[271]short repeat Pathogenic 187952 19:46273462-46273463 19:45770204-45770205
47 DMPK NM_004409.5(DMPK):c.*224_*226CTG[281]short repeat Pathogenic 187953 19:46273462-46273463 19:45770204-45770205
48 DMPK NM_004409.5(DMPK):c.*224_*226CTG[303]short repeat Pathogenic 187954 19:46273462-46273463 19:45770204-45770205
49 DMPK NM_004409.5(DMPK):c.*224_*226CTG[307]short repeat Pathogenic 187955 19:46273462-46273463 19:45770204-45770205
50 DMPK NM_004409.5(DMPK):c.*224_*226CTG[313]short repeat Pathogenic 187956 19:46273462-46273463 19:45770204-45770205

Expression for Myotonic Dystrophy 1

LifeMap Discovery
Genes differentially expressed in tissues of Myotonic Dystrophy 1 patients vs. healthy controls: 35 (show all 15)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Skeletal Muscle - 4.36 0.001
2 COL21A1 collagen, type XXI, alpha 1 Skeletal Muscle + 3.86 0.000
3 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Skeletal Muscle + 3.81 0.000
4 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 Skeletal Muscle - 3.53 0.003
5 NNMT nicotinamide N-methyltransferase Skeletal Muscle - 3.50 0.000
6 PRPF38B pre-mRNA processing factor 38B Skeletal Muscle + 3.48 0.000
7 NEB nebulin Skeletal Muscle + 3.42 0.000
8 RIF1 replication timing regulatory factor 1 Skeletal Muscle + 3.33 0.000
9 SPX spexin hormone Skeletal Muscle + 3.31 0.001
10 SCD5 stearoyl-CoA desaturase 5 Skeletal Muscle + 3.20 0.000
11 AQP4 aquaporin 4 Skeletal Muscle + 3.19 0.001
12 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Skeletal Muscle - 3.09 0.009
13 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Skeletal Muscle - 3.07 0.003
14 GOLGA8A golgin A8 family, member A Skeletal Muscle + 3.03 0.000
15 COL3A1 collagen, type III, alpha 1 Skeletal Muscle + 3.02 0.001
Search GEO for disease gene expression data for Myotonic Dystrophy 1.

Pathways for Myotonic Dystrophy 1

Pathways related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 MBNL1 CELF1 CEBPD

GO Terms for Myotonic Dystrophy 1

Biological processes related to Myotonic Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.62 MBNL3 MBNL2 MBNL1 CELF1
2 RNA splicing GO:0008380 9.56 MBNL3 MBNL2 MBNL1 CELF1
3 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.26 MBNL3 MBNL2 MBNL1 CELF1
4 positive regulation of lipopolysaccharide-mediated signaling pathway GO:0031666 9.16 PRKCA LY86
5 regulation of RNA splicing GO:0043484 8.92 MBNL3 MBNL2 MBNL1 CELF1

Sources for Myotonic Dystrophy 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
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33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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