MCID: MYT003
MIFTS: 36

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 70 32
Myotonic Syndrome 58 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:450
ICD9CM 34 359.2
MeSH 44 D020967
NCIt 50 C84913
SNOMED-CT 67 155096007
ICD10 32 G71.1
MESH via Orphanet 45 D020967
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 71 C0553604
Orphanet 58 ORPHA206970
UMLS 70 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 congenita 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 and pituitary, and related phenotype is 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 63)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 31.0 SCN4A CNBP CLCN1
2 hyperkalemic periodic paralysis 30.4 SCN4A CNBP CLCN1
3 myotonic dystrophy 2 30.3 YIPF7 TNNT2 SIX5 SCN4A MBNL3 MBNL2
4 myotonia 30.2 SCN4A MBNL1 DMPK CNBP CLCN1
5 myopathy 29.8 TNNT2 SCN4A MBNL1 DMPK CNBP CLCN1
6 myotonic dystrophy 29.8 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
7 cataract 29.8 SIX5 MBNL1 ERCC6 DMPK CNBP
8 myotonic dystrophy 1 29.5 YIPF7 TNNT2 SIX5 MIR675 MIR33A MBNL3
9 myotonia, potassium-aggravated 11.0
10 richieri costa da silva syndrome 11.0
11 immature cataract 10.4 DMPK CNBP
12 atrophic muscular disease 10.4 CLCN1 ATP2A1
13 paramyotonia congenita of von eulenburg 10.3
14 expressive language disorder 10.3 ERCC6 CEBPD
15 phonagnosia 10.3 CEBPD C9orf72
16 oculopharyngeal muscular dystrophy 10.3 MBNL1 DMPK CNBP CELF1
17 dysgraphia 10.2 CEBPD C9orf72
18 writing disorder 10.2 CEBPD C9orf72
19 spinocerebellar ataxia 31 10.2 C9orf72 ATXN10
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.2 MBNL1 C9orf72 ATXN10
21 spinocerebellar ataxia 10 10.2 MBNL1 CNBP C9orf72 ATXN10
22 familial periodic paralysis 10.2 SCN4A CLCN1
23 echolalia 10.2 CEBPD C9orf72
24 brody myopathy 10.1 CLCN1 ATP2A1
25 periodic paralysis 10.1
26 cerebellar disease 10.1 MBNL1 ERCC6 C9orf72 ATXN10
27 schwartz-jampel syndrome, type 1 10.1
28 lens disease 10.1 SIX5 MBNL1 ERCC6 DMPK CNBP CELF1
29 muscular disease 10.1 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
30 dentatorubral-pallidoluysian atrophy 10.1 MBNL1 ERCC6 CNBP C9orf72 ATXN10
31 muscle tissue disease 10.1 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
32 fuchs' endothelial dystrophy 10.0 MBNL3 MBNL2 MBNL1 DMPK C9orf72 ATXN10
33 congenital myasthenic syndrome 10.0 TNNT2 SCN4A ERCC6 CLCN1
34 x-linked hereditary ataxia 10.0 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
35 huntington disease-like 2 10.0 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
36 spinocerebellar ataxia 36 10.0 C9orf72 ATXN10
37 fragile x-associated tremor/ataxia syndrome 10.0 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
38 episodic ataxia, type 1 10.0
39 episodic ataxia 10.0
40 malignant hyperthermia 9.9
41 autosomal dominant cerebellar ataxia 9.9 MBNL1 ERCC6 DMPK CNBP CELF1 C9orf72
42 fragile x syndrome 9.9 SIX5 MBNL1 ERCC6 DMPK CELF1 C9orf72
43 myxedema 9.9
44 muscular dystrophy 9.9 TNNT2 SCN4A MBNL1 DMPK CLCN1 CELF1
45 spinal and bulbar muscular atrophy, x-linked 1 9.9 MBNL1 ERCC6 DMPK CELF2 CELF1 C9orf72
46 spinocerebellar ataxia 8 9.8 MBNL2 MBNL1 DMPK CNBP CELF1 CEBPD
47 cardiac arrhythmia 9.8
48 myotonia congenita, autosomal dominant 9.8
49 myotonia congenita, autosomal recessive 9.8
50 endomyocardial fibrosis 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.32 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 15)
# 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 Carbonic Anhydrase Inhibitors Phase 3
5 Psychotropic Drugs Phase 3
6 Anticonvulsants Phase 3
7 Antipsychotic Agents Phase 3
8 Hormones Phase 3
9 calcium channel blockers Phase 3
10 Calcium, Dietary Phase 3
11 Sodium Channel Blockers Phase 3
12 Diuretics, Potassium Sparing Phase 3
13 Anti-Arrhythmia Agents Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 11)
# 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 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
4 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
5 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
6 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
7 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
8 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
9 Myotonic Dystrophy Family Registry Recruiting NCT02398786
10 Using MRI to Quantify Fatty Infiltration in Muscle Tissue, and Compare it to Isometric Muscle Strength Measurements and (2) Use Questionnaires, Systemic Interview and Simple Myotonic Bed-side Tests to Describe the Phenotype. Recruiting NCT04808388
11 Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Mexiletine in Paediatric Patients With Myotonic Disorders Who Have Completed the MEX-NM-301 Study. Not yet recruiting NCT04622553 Mexiletine

Search NIH Clinical Center for Myotonic Disease

Genetic Tests for Myotonic Disease

Genetic tests related to Myotonic Disease:

# Genetic test Affiliating Genes
1 Myotonic Syndrome 29

Anatomical Context for Myotonic Disease

MalaCards organs/tissues related to Myotonic Disease:

40
Skeletal Muscle, Pituitary

Publications for Myotonic Disease

Articles related to Myotonic Disease:

(show top 50) (show all 94)
# Title Authors PMID Year
1
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 54 61
11113225 2000
2
Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? 61 54
9196902 1997
3
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. 61 54
7826272 1995
4
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 61 54
7951242 1994
5
Myotonic disorders and pregnancy. 61
32284727 2020
6
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders. 61
32670189 2020
7
Trouble at the junction: When myopathy and myasthenia overlap. 61
31449669 2019
8
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 61
31054108 2019
9
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 61
30575988 2019
10
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies. 61
32010054 2019
11
Peripheral nerve hyperexcitability. 61
31307606 2019
12
A Focus on the Synthesis and Pharmacokinetics of Tocainide and its Analogues. 61
29589531 2018
13
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. 61
28662944 2017
14
The Dystrophic and Nondystrophic Myotonias. 61
27922499 2016
15
Myotonic disorders: A review article. 61
27141276 2016
16
Myotonic Disorders and Channelopathies. 61
26502760 2015
17
Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay. 61
25684273 2015
18
Repurposing of sodium channel antagonists as potential new anti-myotonic drugs. 61
25218042 2014
19
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 61
25036107 2014
20
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 61
23810313 2013
21
The diagnosis and treatment of myotonic disorders. 61
23536309 2013
22
Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders? 61
23381896 2013
23
Electrodiagnosis of myotonic disorders. 61
23177040 2013
24
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes. 61
22257501 2012
25
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. 61
21204798 2011
26
Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. 61
20635151 2011
27
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 61
20439846 2010
28
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers. 61
19786584 2009
29
Myotonic disorders. 61
18974556 2008
30
Differential diagnosis of myotonic disorders. 61
18067134 2008
31
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. 61
17654559 2007
32
The nondystrophic myotonias. 61
17395134 2007
33
Myotonic disorders. 61
18808995 2007
34
Sleep disorders in childhood-onset myotonic dystrophy type 1. 61
16934465 2006
35
Familial risks for diseases of myoneural junction and muscle in siblings based on hospitalizations and deaths in sweden. 61
16899165 2006
36
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. 61
16920640 2006
37
[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. 61
16557171 2006
38
Drug treatment for myotonia. 61
16437496 2006
39
New classification and treatment for myotonic disorders. 61
16293911 2005
40
Oxidative stress in myotonic dystrophy type 1. 61
16036357 2005
41
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity. 61
16207136 2005
42
Myotonic dystrophy type 2 and related myotonic disorders. 61
15503094 2004
43
Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. 54
15317754 2004
44
Treatment in myotonia and periodic paralysis. 61
15269662 2004
45
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. 61
12699527 2003
46
Malignant hyperthermia and myotonic disorders. 61
12298310 2002
47
[Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations]. 61
11519202 2001
48
Effects of temperature on neuromuscular electrophysiology. 61
11410914 2001
49
Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. 61
11547948 2001
50
Clinical and genetic heterogeneity in myotonic dystrophies. 61
11102902 2000

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic stress granule GO:0010494 8.8 MBNL1 CELF1 C9orf72

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 muscle contraction GO:0006936 9.54 TNNT2 SCN4A CLCN1
4 mRNA splice site selection GO:0006376 9.4 CELF2 CELF1
5 regulation of heart contraction GO:0008016 9.33 TNNT2 DMPK CELF2
6 regulation of RNA splicing GO:0043484 9.26 MBNL3 MBNL2 MBNL1 CELF1
7 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 pre-mRNA binding GO:0036002 8.62 CELF2 CELF1

Sources for Myotonic Disease

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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