MCID: MYT003
MIFTS: 37

Myotonic Disease

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myotonic Disease

MalaCards integrated aliases for Myotonic Disease:

Name: Myotonic Disease 12 15
Myotonic Disorders 54 71
Myotonic Syndrome 58
Myotonic Disorder 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:450
ICD9CM 34 359.2
MeSH 43 D020967
NCIt 49 C84913
ICD10 32 G71.1
MESH via Orphanet 44 D020967
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 72 C0553604
Orphanet 58 ORPHA206970
UMLS 71 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 myotonia and hyperkalemic periodic paralysis, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Myotonic Disease is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways is Adipogenesis. The drugs Dichlorphenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and pituitary, and related phenotypes are mortality/aging and muscle

Related Diseases for Myotonic Disease

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 myotonia 30.5 DMPK CNBP CLCN1
2 hyperkalemic periodic paralysis 30.4 DMPK CNBP CLCN1 CCT3
3 myotonic dystrophy 2 30.2 YIPF7 SIX5 MBNL3 MBNL2 MBNL1 HNRNPH2
4 myotonia congenita 29.9 DMPK CNBP CLCN1 CCT3
5 myotonic dystrophy 29.6 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
6 cataract 29.5 SIX5 MBNL1 ERCC6 DMPK CNBP
7 muscular dystrophy 29.4 TNNT2 MBNL1 DMPK CLCN1 CELF1 ATP2A1
8 neuromuscular disease 29.3 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
9 myotonic dystrophy 1 29.0 YIPF7 TNNT2 SIX5 MIR33A MBNL3 MBNL2
10 myotonia, potassium-aggravated 11.5
11 richieri costa da silva syndrome 11.2
12 paramyotonia congenita of von eulenburg 10.7
13 myopathy of extraocular muscle 10.4 MBNL1 DMPK CELF1
14 schwartz-jampel syndrome, type 1 10.4
15 fuchs' endothelial dystrophy 10.3 MBNL2 MBNL1 DMPK
16 expressive language disorder 10.3 ERCC6 CEBPD
17 spinocerebellar ataxia 36 10.3 C9orf72 ATXN10
18 brody myopathy 10.2 CLCN1 ATP2A1
19 spinocerebellar ataxia 10 10.2 DMPK CNBP CCT3 ATXN10
20 episodic ataxia, type 1 10.2
21 episodic ataxia 10.2
22 echolalia 10.2 CEBPD C9orf72
23 familial periodic paralysis 10.2 CNBP CLCN1
24 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.1 HNRNPH2 C9orf72 ATXN10
25 lens disease 10.0 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
26 huntington disease-like 2 10.0 MBNL1 DMPK CNBP CELF1 CCT3 ATXN10
27 spinal and bulbar muscular atrophy, x-linked 1 10.0 MBNL1 ERCC6 DMPK CELF2 C9orf72
28 fragile x-associated tremor/ataxia syndrome 10.0 MBNL1 DMPK CNBP CELF1 C9orf72 ATXN10
29 atrial septal defect 1 9.9 HNRNPH2 CEBPD
30 malignant hyperthermia 9.9
31 x-linked hereditary ataxia 9.9 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
32 spinocerebellar ataxia 8 9.9 MBNL1 DMPK CNBP CELF1 CCT3 C9orf72
33 myxedema 9.8
34 muscle tissue disease 9.8 MIR33A MBNL1 ERCC6 DMPK CNBP CLCN1
35 cardiac arrhythmia 9.7
36 frontotemporal dementia 9.7
37 visual epilepsy 9.7
38 muscular atrophy 9.7
39 diabetes insipidus 9.7
40 periodic paralyses 9.7
41 seizure disorder 9.7
42 strabismus 9.7
43 monocular esotropia 9.7
44 myopathy 9.7
45 mechanical strabismus 9.7
46 esotropia 9.7
47 thomsen's myotonia 9.7
48 periodic paralysis 9.7
49 progressive muscular dystrophy 9.7
50 hypogonadism, male 9.7

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ATP2A1 ATXN10 C9orf72 CCT3 CEBPD CELF2
2 muscle MP:0005369 9.28 ATP2A1 CLCN1 DMPK ERCC6 MBNL1 MBNL2

Drugs & Therapeutics for Myotonic Disease

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Carbonic Anhydrase Inhibitors Phase 3
6 Sodium Channel Blockers Phase 3
7 Diuretics, Potassium Sparing Phase 3
8 Tranquilizing Agents Phase 3
9 Antipsychotic Agents Phase 3
10 Psychotropic Drugs Phase 3
11 Anticonvulsants Phase 3
12 Calcium, Dietary Phase 3
13 calcium channel blockers Phase 3
14 Central Nervous System Depressants Phase 3
15 Hormones Phase 3
16 Anti-Arrhythmia Agents Phase 3
17
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
2 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
4 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
6 Myotonic Dystrophy Family Registry Recruiting NCT02398786
7 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108

Search NIH Clinical Center for Myotonic Disease

Genetic Tests for Myotonic Disease

Genetic tests related to Myotonic Disease:

# Genetic test Affiliating Genes
1 Myotonic Disorder 29

Anatomical Context for Myotonic Disease

MalaCards organs/tissues related to Myotonic Disease:

40
Skeletal Muscle, Heart, Pituitary, Endothelial

Publications for Myotonic Disease

Articles related to Myotonic Disease:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Trouble at the junction: When myopathy and myasthenia overlap. 61
31449669 2019
2
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 61
31054108 2019
3
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 61
30575988 2019
4
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies. 61
32010054 2019
5
Peripheral nerve hyperexcitability. 61
31307606 2019
6
A Focus on the Synthesis and Pharmacokinetics of Tocainide and its Analogues. 61
29589531 2018
7
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. 61
28662944 2017
8
The Dystrophic and Nondystrophic Myotonias. 61
27922499 2016
9
Myotonic disorders: A review article. 61
27141276 2016
10
Myotonic Disorders and Channelopathies. 61
26502760 2015
11
Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay. 61
25684273 2015
12
Repurposing of sodium channel antagonists as potential new anti-myotonic drugs. 61
25218042 2014
13
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 61
25036107 2014
14
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 61
23810313 2013
15
The diagnosis and treatment of myotonic disorders. 61
23536309 2013
16
Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders? 61
23381896 2013
17
Electrodiagnosis of myotonic disorders. 61
23177040 2013
18
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes. 61
22257501 2012
19
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. 61
21204798 2011
20
Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. 61
20635151 2011
21
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 61
20439846 2010
22
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers. 61
19786584 2009
23
Myotonic disorders. 61
18974556 2008
24
Differential diagnosis of myotonic disorders. 61
18067134 2008
25
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. 61
17654559 2007
26
The nondystrophic myotonias. 61
17395134 2007
27
Myotonic disorders. 61
18808995 2007
28
Sleep disorders in childhood-onset myotonic dystrophy type 1. 61
16934465 2006
29
Familial risks for diseases of myoneural junction and muscle in siblings based on hospitalizations and deaths in sweden. 61
16899165 2006
30
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. 61
16920640 2006
31
[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. 61
16557171 2006
32
Drug treatment for myotonia. 61
16437496 2006
33
New classification and treatment for myotonic disorders. 61
16293911 2005
34
Oxidative stress in myotonic dystrophy type 1. 61
16036357 2005
35
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity. 61
16207136 2005
36
Myotonic dystrophy type 2 and related myotonic disorders. 61
15503094 2004
37
Treatment in myotonia and periodic paralysis. 61
15269662 2004
38
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. 61
12699527 2003
39
Malignant hyperthermia and myotonic disorders. 61
12298310 2002
40
[Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations]. 61
11519202 2001
41
Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. 61
11547948 2001
42
Effects of temperature on neuromuscular electrophysiology. 61
11410914 2001
43
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 61
11113225 2000
44
Clinical and genetic heterogeneity in myotonic dystrophies. 61
11102902 2000
45
Myotonic dystrophies. 61
11073357 2000
46
Therapy in myotonic disorders and in muscle channelopathies. 61
11382195 2000
47
Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies. 61
10467912 1999
48
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10227633 1999
49
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). 61
10063831 1999
50
Familial cramp due to potassium-aggravated myotonia. 61
9771789 1998

Variations for Myotonic Disease

Expression for Myotonic Disease

Search GEO for disease gene expression data for Myotonic Disease.

Pathways for Myotonic Disease

Pathways related to Myotonic Disease according to GeneCards Suite gene sharing:

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

GO Terms for Myotonic Disease

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.65 MBNL3 MBNL2 MBNL1 CELF2 CELF1
2 RNA splicing GO:0008380 9.62 MBNL3 MBNL2 MBNL1 CELF1
3 mRNA splice site selection GO:0006376 9.37 CELF2 CELF1
4 regulation of heart contraction GO:0008016 9.33 TNNT2 DMPK CELF2
5 regulation of RNA splicing GO:0043484 9.26 MBNL3 MBNL2 MBNL1 CELF1
6 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.02 MBNL3 MBNL2 MBNL1 CELF2 CELF1

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.23 MBNL3 MBNL2 MBNL1 HNRNPH2 CNBP CELF2
2 pre-mRNA binding GO:0036002 8.96 CELF2 CELF1

Sources for Myotonic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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