MCID: MYT003
MIFTS: 37

Myotonic Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Myotonic Disease

MalaCards integrated aliases for Myotonic Disease:

Name: Myotonic Disease 12 15
Myotonic Disorders 56 74

Classifications:



External Ids:

Disease Ontology 12 DOID:450
ICD9CM 36 359.2
MeSH 45 D020967
NCIt 51 C84913
ICD10 34 G71.1
UMLS 74 C0553604

Summaries for Myotonic Disease

Disease Ontology : 12 A muscular dystrophy that is characterized by progressive muscle wasting and weakness.

MalaCards based summary : Myotonic Disease, also known as myotonic disorders, is related to myotonic dystrophy 2 and myotonia congenita, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Myotonic Disease is MBNL1 (Muscleblind Like Splicing Regulator 1), and among its related pathways/superpathways are Cardiac conduction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Mexiletine and Dichlorphenamide have been mentioned in the context of this disorder. Affiliated tissues include brain and heart, and related phenotype is muscle.

Related Diseases for Myotonic Disease

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



Diseases related to Myotonic Disease

Symptoms & Phenotypes for Myotonic Disease

UMLS symptoms related to Myotonic Disease:


muscle weakness, myalgia, muscle cramp, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Myotonic Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ATP2A1 CLCN1 DMPK MBNL1 MBNL3 RYR1

Drugs & Therapeutics for Myotonic Disease

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3,Phase 2 31828-71-4 4178
2
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Dopamine Approved Phase 2, Phase 3 62-31-7, 51-61-6 681
5
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
6
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
7
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
8 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
9 Anti-Arrhythmia Agents Phase 3,Phase 2
10 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
11 Carbonic Anhydrase Inhibitors Phase 3
12 Antipsychotic Agents Phase 3
13 Central Nervous System Depressants Phase 3
14 Calcium, Dietary Phase 3
15 Psychotropic Drugs Phase 3
16 Hormones Phase 3
17 Tranquilizing Agents Phase 3
18 calcium channel blockers Phase 3
19 Anticonvulsants Phase 3
20 Central Nervous System Stimulants Phase 2, Phase 3
21 Dopamine Agents Phase 2, Phase 3
22 Neurotransmitter Agents Phase 2, Phase 3
23 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
24 Dopamine Uptake Inhibitors Phase 2, Phase 3
25 Immunologic Factors Phase 2, Phase 3
26 Adjuvants, Immunologic Phase 2, Phase 3
27 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
28
Zinc Approved, Investigational Phase 2 7440-66-6 32051
29
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
30 Hypoglycemic Agents Phase 2
31 Insulin, Globin Zinc Phase 2,Phase 1
32 Complement Factor I Phase 2
33 Mitogens Phase 2,Phase 1
34 insulin Phase 2,Phase 1
35
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
36
Fibrinolysin Investigational Not Applicable 9004-09-5
37 Antifibrinolytic Agents Not Applicable
38 Anticoagulants Not Applicable
39 Pigment epithelium-derived factor Not Applicable
40 Plasminogen Activator Inhibitor 1 Not Applicable
41 Liver Extracts Not Applicable
42 Plasminogen Not Applicable
43 Lupus Coagulation Inhibitor Not Applicable
44 Hemostatics Not Applicable
45 Plasminogen Inactivators Not Applicable
46 alpha-2-Antiplasmin Not Applicable

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
6 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
7 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
8 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
9 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
10 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
11 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
12 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
13 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
14 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
15 Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
16 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
17 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
18 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
19 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
20 Characteristics of Nondystrophic Myotonias Completed NCT00244413
21 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
22 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
23 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
24 Venous Thromboembolism in DM1 Completed NCT03141749
25 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
26 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779 Not Applicable
27 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841 Not Applicable
28 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
29 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
30 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
31 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
32 Myotonic Dystrophy Family Registry Recruiting NCT02398786
33 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
34 Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) Recruiting NCT03867435
35 Clinical Outcome Measures in Myotonic Dystrophy Type 2 Recruiting NCT03603171
36 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
37 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735 Not Applicable
38 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
39 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460 Not Applicable
40 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504
41 Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients Active, not recruiting NCT03784586
42 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923
43 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
44 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408 Not Applicable
45 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Myotonic Disease

Genetic Tests for Myotonic Disease

Anatomical Context for Myotonic Disease

MalaCards organs/tissues related to Myotonic Disease:

42
Brain, Heart

Publications for Myotonic Disease

Articles related to Myotonic Disease:

(show all 24)
# Title Authors Year
1
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. ( 31054108 )
2019
2
Myotonic disorders: A review article. ( 27141276 )
2016
3
Myotonic Disorders and Channelopathies. ( 26502760 )
2015
4
The diagnosis and treatment of myotonic disorders. ( 23536309 )
2013
5
Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders? ( 23381896 )
2013
6
Electrodiagnosis of myotonic disorders. ( 23177040 )
2013
7
Myotonic disorders. ( 18974556 )
2008
8
Differential diagnosis of myotonic disorders. ( 18067134 )
2008
9
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. ( 17654559 )
2007
10
Myotonic disorders. ( 18808995 )
2007
11
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity. ( 16207136 )
2005
12
New classification and treatment for myotonic disorders. ( 16293911 )
2005
13
Myotonic dystrophy type 2 and related myotonic disorders. ( 15503094 )
2004
14
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. ( 12699527 )
2003
15
Malignant hyperthermia and myotonic disorders. ( 12298310 )
2002
16
Therapy in myotonic disorders and in muscle channelopathies. ( 11382195 )
2000
17
Phenotype and genotype in the myotonic disorders. ( 9703436 )
1998
18
Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment. ( 9075021 )
1997
19
Myotonic disorders and periodic paralysis. ( 7952854 )
1994
20
Effect of acetazolamide on insulin sensitivity in myotonic disorders. ( 6378152 )
1984
21
Myotonic disorders. ( 7111139 )
1982
22
The myotonic disorders and the periodic paralyses. ( 888733 )
1977
23
Muscle weakness after rest in myotonic disorders; an electrophysiological study. ( 4448998 )
1974
24
THE HEART IN MYOTONIC DISEASE. ( 14221658 )
1964

Variations for Myotonic Disease

Expression for Myotonic Disease

Search GEO for disease gene expression data for Myotonic Disease.

Pathways for Myotonic Disease

GO Terms for Myotonic Disease

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel complex GO:0034704 9.16 ATP2A1 RYR1
2 sarcoplasmic reticulum GO:0016529 9.13 ATP2A1 DMPK RYR1
3 sarcoplasmic reticulum membrane GO:0033017 8.8 ATP2A1 DMPK RYR1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 ATP2A1 CLCN1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.58 ATP2A1 CLCN1 RYR1
3 cellular calcium ion homeostasis GO:0006874 9.33 ATP2A1 DMPK RYR1
4 regulation of heart contraction GO:0008016 9.32 DMPK TNNT2
5 regulation of RNA splicing GO:0043484 9.26 MBNL1 MBNL3
6 regulation of cardiac conduction GO:1903779 9.13 ATP2A1 DMPK RYR1
7 muscle contraction GO:0006936 8.92 CLCN1 RYR1 SCN4A TNNT2

Sources for Myotonic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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