MCID: MYT002
MIFTS: 51

Myotonic Dystrophy

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

Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy 73 20 43 58 36 29 54 6 70
Dystrophia Myotonica 20 43
Myotonia Dystrophica 20 43
Myotonia Atrophica 20 43
Myotonic Dystrophy 1 70

Characteristics:

Orphanet epidemiological data:

58
myotonic dystrophy
Prevalence: >1/1000,1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Japan),1-9/100000 (Ireland),1-5/10000 (Croatia),1-5/10000 (New Zealand),1-5/10000 (Finland),1-9/100000 (Norway),1-5/10000 (Spain),1-9/100000 (United States);

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H00568
MESH via Orphanet 45 D009223
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 71 C0027126 C0410226
Orphanet 58 ORPHA206647
UMLS 70 C0027126 C3250443

Summaries for Myotonic Dystrophy

MedlinePlus Genetics : 43 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop a condition called diabetes mellitus, in which blood sugar levels can become dangerously high. The features of myotonic dystrophy often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects muscles farthest from the center of the body (distal muscles), such as those of the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.There are two variations of myotonic dystrophy type 1: the mild and congenital types. Mild myotonic dystrophy is apparent in mid to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonia and myotonic dystrophy 2, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (DM1 Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and endothelial, and related phenotypes are Decreased viability and Decreased viability

GARD : 20 Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing ( myotonia ) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family. Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing. Treatment is based on each person's specific signs and symptoms and may include physical therapy, pain management with medication, and consultation with specialists.

KEGG : 36 Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length.

Wikipedia : 73 Myotonic dystrophy is a type of muscular dystrophy, a group of long-term genetic disorders that impair... more...

Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

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

(show top 50) (show all 619)
# Related Disease Score Top Affiliating Genes
1 myotonia 31.2 MBNL1 DMPK CNBP CLCN1
2 myotonic dystrophy 2 30.8 SIX5 MBNL3 MBNL2 MBNL1 LOC108644431 DMPK
3 muscular dystrophy 30.7 MBNL1 DMPK CLCN1 CKM CELF1
4 myotonic dystrophy 1 30.6 SIX5 MBNL3 MBNL2 MBNL1 LOC109461477 LOC107075317
5 cataract 30.4 SIX5 MBNL1 HSPB2 DMPK CNBP
6 autosomal dominant cerebellar ataxia 30.3 MBNL1 DMPK CNBP CELF1
7 myotonia congenita 30.3 LOC108644431 CNBP CLCN1
8 fragile x syndrome 30.2 SIX5 MBNL1 DMPK CELF1
9 muscular disease 30.0 MBNL1 DMPK CNBP CLCN1
10 myopathy 30.0 MBNL1 LOC108644431 DMPK CNBP CLCN1 CKM
11 oculopharyngeal muscular dystrophy 29.9 MBNL1 DMPK CNBP CELF1
12 fuchs' endothelial dystrophy 29.8 MBNL3 MBNL2 MBNL1 DMPK
13 spinocerebellar ataxia 8 29.7 MBNL2 MBNL1 DMPK CNBP CELF1
14 hyperkalemic periodic paralysis 29.6 CNBP CLCN1
15 spinocerebellar ataxia 10 29.6 MBNL1 CNBP
16 neuromuscular disease 29.4 MBNL2 MBNL1 HSPB2 DMPK CNBP CLCN1
17 huntington disease-like 2 29.4 MBNL2 MBNL1 DMPK CNBP CELF1
18 fragile x-associated tremor/ataxia syndrome 29.4 MBNL2 MBNL1 DMPK CNBP CELF1
19 myotonic disease 28.8 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
20 pilomatrixoma 11.3
21 adult-onset steinert myotonic dystrophy 11.3
22 childhood-onset steinert myotonic dystrophy 11.3
23 late-onset steinert myotonic dystrophy 11.3
24 congenital-onset steinert myotonic dystrophy 11.2
25 juvenile-onset steinert myotonic dystrophy 11.2
26 hypotonia 11.2
27 dysphagia 11.2
28 myotonic cataract 11.1
29 swallowing disorders 11.1
30 nondystrophic myotonia 11.1
31 floppy infant syndrome 11.0
32 infantile hypotonia 11.0
33 muscular atrophy 10.8
34 respiratory failure 10.7
35 atrioventricular block 10.7
36 cardiac conduction defect 10.6
37 sleep apnea 10.6
38 progressive familial heart block, type ia 10.6
39 hypogonadism 10.6
40 hyperinsulinism 10.6
41 ptosis 10.6
42 polyhydramnios 10.6
43 neuropathy 10.5
44 hypersomnia 10.5
45 glucose intolerance 10.5
46 left bundle branch hemiblock 10.5
47 huntington disease 10.5
48 muscular dystrophy, duchenne type 10.5
49 sleep disorder 10.5
50 dilated cardiomyopathy 10.4

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



Diseases related to Myotonic Dystrophy

Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:


excessive daytime somnolence; weakness

GenomeRNAi Phenotypes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.84 DMPK
2 Decreased viability GR00221-A-1 9.84 CDC42BPA CDC42BPG DMPK
3 Decreased viability GR00221-A-2 9.84 CDC42BPA CDC42BPG CKM DMPK
4 Decreased viability GR00221-A-3 9.84 CDC42BPA CDC42BPG DMPK CDC42BPB
5 Decreased viability GR00221-A-4 9.84 CDC42BPA DMPK CDC42BPB
6 Decreased viability GR00249-S 9.84 DMPK
7 Decreased viability GR00342-S-1 9.84 CDC42BPA
8 Decreased viability GR00342-S-3 9.84 CDC42BPA
9 Decreased cell viability after pRB stimulation GR00230-A-1 8.96 CKM DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CKM CLCN1 DMPK MBNL1 MBNL2 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
5
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 5881
6 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
7 Immunologic Factors Phase 2, Phase 3
8 Adjuvants, Immunologic Phase 2, Phase 3
9 Neurotransmitter Agents Phase 2, Phase 3
10 Central Nervous System Stimulants Phase 2, Phase 3
11 Dopamine Agents Phase 2, Phase 3
12 Dopamine Uptake Inhibitors Phase 2, Phase 3
13 Psychotropic Drugs Phase 3
14 Anticonvulsants Phase 3
15 Antipsychotic Agents Phase 3
16 Hormones Phase 3
17 calcium channel blockers Phase 3
18 Calcium, Dietary Phase 3
19 Sodium Channel Blockers Phase 3
20 Diuretics, Potassium Sparing Phase 3
21 Anti-Arrhythmia Agents Phase 3
22
Calcium Nutraceutical Phase 3 7440-70-2 271
23
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
24 insulin Phase 1, Phase 2
25 Mitogens Phase 1, Phase 2
26 Insulin, Globin Zinc Phase 1, Phase 2
27
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
28
Caffeine Approved 58-08-2 2519
29
Fibrinolysin Investigational 9004-09-5
30 Polymethyl Methacrylate
31 Hemostatics
32 Lupus Coagulation Inhibitor
33 Anticoagulants
34 Antifibrinolytic Agents
35 Coagulants
36 Plasminogen
37 Plasminogen Activator Inhibitor 1
38 Plasminogen Inactivators
39 Liver Extracts
40 Cola

Interventional clinical trials:

(show top 50) (show all 55)
# 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 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 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
5 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
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 (REACH CDM) Recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Investigate the Efficacy and Safety of Mexiletine During 26 Weeks of Treatment in Patients With Myotonic Dystrophy Type 1 and Type 2 [The MIND Study] Not yet recruiting NCT04700046 Phase 3 Mexiletine 167 mg;Placebo
8 An Open-label, Non-Comparative Study to Evaluate the Steady-State Pharmacokinetics, Safety, and Efficacy of Mexiletine in Adolescents and Children With Myotonic Disorders Not yet recruiting NCT04624750 Phase 3 Mexiletine
9 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
10 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
11 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
12 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
13 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
14 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Completed NCT03959189 Phase 1 ERX-963;Placebo
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
17 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Unknown status NCT02880735
18 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Unknown status NCT02831504
19 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
20 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
21 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Unknown status NCT03211923
22 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
23 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
24 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
25 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Completed NCT03603171
26 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Completed NCT02375087
27 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
28 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
29 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
30 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
32 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
33 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
34 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
35 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
36 Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1 Recruiting NCT04712422
37 Assessing the Effect of the MYODM Food Supplement on Quality of Life, Fatigue and Hypersomnia in Patients With Myotonic Dystrophy Type 1 Recruiting NCT04634682
38 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
39 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
40 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
41 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
42 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
43 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
44 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
45 Myotonic Dystrophy Family Registry Recruiting NCT02398786
46 An Observational Study to Describe the Long-term Safety and Effectiveness of Namuscla in the Symptomatic Management of Myotonia in Adult Patients With Non-dystrophic Myotonic Disorders Recruiting NCT04616807 Mexiletine
47 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
48 Comparison of Two NGS Phasing Techniques of Parental Haplotypes for NIPD of Triplet Expansion Diseases Active, not recruiting NCT04698551
49 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Active, not recruiting NCT04187482
50 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Enrolling by invitation NCT03981575

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

# Genetic test Affiliating Genes
1 Myotonic Dystrophy 29

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

40
Skeletal Muscle, Eye, Endothelial, Smooth Muscle, Pituitary, Liver, Thyroid

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 5398)
# Title Authors PMID Year
1
Myotonic dystrophy: candidate small molecule therapeutics. 61 20
28780071 2017
2
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. 61 20
28803727 2017
3
Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. 54 61
20138216 2010
4
Molecular aptamer beacon for myotonic dystrophy kinase-related Cdc42-binding kinase alpha. 54 61
20188990 2010
5
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. 54 61
20406734 2010
6
Human MRCKalpha is regulated by cellular iron levels and interferes with transferrin iron uptake. 54 61
20188707 2010
7
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. 54 61
20051426 2010
8
Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy. 61 54
20074967 2010
9
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. 54 61
20360842 2010
10
CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. 61 54
20458885 2010
11
Pathogenic mechanisms of myotonic dystrophy. 61 54
19909263 2009
12
MT1-MMP- and Cdc42-dependent signaling co-regulate cell invasion and tunnel formation in 3D collagen matrices. 54 61
19934222 2009
13
A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis. 61 54
19946639 2009
14
RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study. 61 54
19864209 2009
15
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. 61 54
19184181 2009
16
High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. 61 54
19482024 2009
17
Model for alternative splicing of insulin receptor in myotonic dystrophy type 1. 54 61
19902080 2009
18
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. 61 54
19345584 2009
19
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. 61 54
19683984 2009
20
Analysis of repetitive regions in myotonic dystrophy type 1 and 2. 54 61
19360700 2009
21
A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. 61 54
19218442 2009
22
Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. 54 61
19208413 2009
23
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. 61 54
19131108 2009
24
[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy]. 54 61
19567095 2009
25
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. 54 61
19095965 2009
26
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. 61 54
18804219 2008
27
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. 61 54
19472917 2008
28
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. 61 54
18583094 2008
29
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. 61 54
18807109 2008
30
A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. 54 61
18653337 2008
31
HSPB2/MKBP, a novel and unique member of the small heat-shock protein family. 61 54
18615620 2008
32
Myotonic disorders. 54 61
18974556 2008
33
Characterization of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta. 54 61
18263588 2008
34
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. 61 54
18057971 2008
35
Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. 54 61
18286170 2008
36
The hypocretin neurotransmission system in myotonic dystrophy type 1. 61 54
18195268 2008
37
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. 54 61
17549748 2008
38
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. 54 61
17728322 2007
39
Fibroblast-led collective invasion of carcinoma cells with differing roles for RhoGTPases in leading and following cells. 61 54
18037882 2007
40
Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. 61 54
17661063 2007
41
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. 54 61
17987120 2007
42
Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. 54 61
17825047 2007
43
Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. 54 61
17487865 2007
44
Regulation of the promoter of CUG triplet repeat binding protein, Cugbp1, during myogenesis. 61 54
17531403 2007
45
Co-operative Cdc42 and Rho signalling mediates ephrinB-triggered endothelial cell retraction. 61 54
17300218 2007
46
Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1". 54 61
17215330 2007
47
The nondystrophic myotonias. 61 54
17395134 2007
48
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. 61 54
17283214 2007
49
Myotonic dystrophy: emerging mechanisms for DM1 and DM2. 61 54
16876389 2007
50
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. 61 54
17204054 2007

Variations for Myotonic Dystrophy

ClinVar genetic disease variations for Myotonic Dystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMPK NM_004409.5(DMPK):c.643G>A (p.Gly215Ser) SNV Uncertain significance 496654 rs747348407 GRCh37: 19:46281417-46281417
GRCh38: 19:45778159-45778159
2 DM1-AS , DMPK , LOC107075317 NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu) SNV Uncertain significance 548605 rs536277584 GRCh37: 19:46274269-46274269
GRCh38: 19:45771011-45771011
3 DM1-AS , DMPK , LOC107075317 NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys) SNV Likely benign 496650 rs78771765 GRCh37: 19:46275054-46275054
GRCh38: 19:45771796-45771796

Expression for Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for Myotonic Dystrophy

GO Terms for Myotonic Dystrophy

Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.93 SIX5 MBNL3 MBNL2 MBNL1 HSPB2 DMPK
2 actomyosin GO:0042641 8.96 CDC42BPB CDC42BPA
3 cell leading edge GO:0031252 8.8 CDC42BPG CDC42BPB CDC42BPA

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.8 DMPK CKM CDC42BPG CDC42BPB CDC42BPA
2 intracellular signal transduction GO:0035556 9.76 DMPK CDC42BPG CDC42BPB CDC42BPA
3 mRNA processing GO:0006397 9.73 MBNL3 MBNL2 MBNL1 CELF1
4 RNA splicing GO:0008380 9.67 MBNL3 MBNL2 MBNL1 CELF1
5 peptidyl-threonine phosphorylation GO:0018107 9.5 CDC42BPG CDC42BPB CDC42BPA
6 actin cytoskeleton reorganization GO:0031532 9.43 CDC42BPG CDC42BPB CDC42BPA
7 actomyosin structure organization GO:0031032 9.33 CDC42BPG CDC42BPB CDC42BPA
8 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.26 MBNL3 MBNL2 MBNL1 CELF1
9 regulation of RNA splicing GO:0043484 8.92 MBNL3 MBNL2 MBNL1 CELF1

Molecular functions related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.46 DMPK CDC42BPG CDC42BPB CDC42BPA
2 magnesium ion binding GO:0000287 9.43 CDC42BPG CDC42BPB CDC42BPA
3 protein serine/threonine kinase activity GO:0004674 9.26 DMPK CDC42BPG CDC42BPB CDC42BPA
4 kinase activity GO:0016301 9.02 DMPK CKM CDC42BPG CDC42BPB CDC42BPA

Sources for Myotonic Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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