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 55 72
Myotonic Syndrome 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:450
ICD9CM 35 359.2
MeSH 44 D020967
NCIt 50 C84913
ICD10 33 G71.1
MESH via Orphanet 45 D020967
ICD10 via Orphanet 34 G71.1
UMLS via Orphanet 73 C0553604
Orphanet 59 ORPHA206970
UMLS 72 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 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 are Cardiac conduction and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. 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 Increased Sindbis virus (SINV) infection and Increased Sindbis virus (SINV) infection

Related Diseases for Myotonic Disease

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 31.0 SCN4A MBNL1 DMPK CNBP CLCN1
2 hyperkalemic periodic paralysis 30.1 SCN4A CLCN1
3 myotonia 29.6 SCN4A DMPK CNBP CLCN1
4 myotonia congenita 29.5 SCN4A CNBP CLCN1
5 myotonic dystrophy 1 29.3 TXLNB SIX5 MIR206 MBNL3 MBNL1 DMPK
6 malignant hyperthermia 29.2 SCN4A RYR1
7 neuromuscular disease 28.8 SCN4A RYR1 DMPK
8 myotonic dystrophy 28.1 ZNF37A SIX5 MBNL3 MBNL1 DMPK CNBP
9 non-dystrophic myotonic disorders 12.3
10 myotonia, potassium-aggravated 11.5
11 richieri costa da silva syndrome 11.2
12 paramyotonia congenita of von eulenburg 10.7
13 schwartz-jampel syndrome, type 1 10.4
14 episodic ataxia, type 1 10.2
15 episodic ataxia 10.2
16 myotonia atrophica 9.9
17 myxedema 9.8
18 cardiac arrhythmia 9.7
19 frontotemporal dementia 9.7
20 visual epilepsy 9.7
21 muscular atrophy 9.7
22 diabetes insipidus 9.7
23 periodic paralyses 9.7
24 seizure disorder 9.7
25 atrophic muscular disease 9.7 RYR1 ATP2A1
26 strabismus 9.7
27 monocular esotropia 9.7
28 myopathy 9.7
29 cataract 9.7
30 mechanical strabismus 9.7
31 esotropia 9.7
32 muscular dystrophy 9.7
33 thomsen's myotonia 9.7
34 periodic paralysis 9.7
35 progressive muscular dystrophy 9.7
36 hypogonadism, male 9.7
37 branchiootic syndrome 1 9.7
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
39 hypogonadotropic hypogonadism 9.7
40 hypogonadism 9.7
41 hypogonadotropism 9.7
42 hypotonia 9.7
43 brody myopathy 9.5 RYR1 CLCN1 ATP2A1
44 familial periodic paralysis 9.5 SCN4A RYR1 CLCN1
45 malignant hyperthermia susceptibility 9.5 SCN4A RYR1
46 hypokalemic periodic paralysis, type 1 9.5 SCN4A RYR1 CLCN1
47 myopathy, tubular aggregate, 1 9.3 RYR1 ATP2A1
48 muscle tissue disease 9.2 RYR1 MBNL1 DMPK CNBP CLCN1
49 muscular disease 8.0 SCN4A RYR1 MIR206 MBNL1 DMPK CNBP

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 9.02 C9orf72 TXLNB
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.02 C9orf72 RYR1 TXLNB

MGI Mouse Phenotypes related to Myotonic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 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 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 Hormones Phase 3
10 Central Nervous System Depressants Phase 3
11 Antipsychotic Agents Phase 3
12 Psychotropic Drugs Phase 3
13 Calcium, Dietary Phase 3
14 Anticonvulsants Phase 3
15 calcium channel blockers Phase 3
16 Anti-Arrhythmia Agents Phase 3
17
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 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

Anatomical Context for Myotonic Disease

MalaCards organs/tissues related to Myotonic Disease:

41
Skeletal Muscle, Heart, Pituitary

Publications for Myotonic Disease

Articles related to Myotonic Disease:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 38
31054108 2019
2
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 38
30575988 2019
3
Peripheral nerve hyperexcitability. 38
31307606 2019
4
A Focus on the Synthesis and Pharmacokinetics of Tocainide and its Analogues. 38
29589531 2018
5
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. 38
28662944 2017
6
The Dystrophic and Nondystrophic Myotonias. 38
27922499 2016
7
Myotonic disorders: A review article. 38
27141276 2016
8
Myotonic Disorders and Channelopathies. 38
26502760 2015
9
Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay. 38
25684273 2015
10
Repurposing of sodium channel antagonists as potential new anti-myotonic drugs. 38
25218042 2014
11
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 38
25036107 2014
12
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 38
23810313 2013
13
The diagnosis and treatment of myotonic disorders. 38
23536309 2013
14
Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders? 38
23381896 2013
15
Electrodiagnosis of myotonic disorders. 38
23177040 2013
16
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes. 38
22257501 2012
17
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. 38
21204798 2011
18
Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. 38
20635151 2011
19
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 38
20439846 2010
20
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers. 38
19786584 2009
21
Myotonic disorders. 38
18974556 2008
22
Differential diagnosis of myotonic disorders. 38
18067134 2008
23
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. 38
17654559 2007
24
The nondystrophic myotonias. 38
17395134 2007
25
Myotonic disorders. 38
18808995 2007
26
Sleep disorders in childhood-onset myotonic dystrophy type 1. 38
16934465 2006
27
Familial risks for diseases of myoneural junction and muscle in siblings based on hospitalizations and deaths in sweden. 38
16899165 2006
28
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. 38
16920640 2006
29
[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. 38
16557171 2006
30
Drug treatment for myotonia. 38
16437496 2006
31
New classification and treatment for myotonic disorders. 38
16293911 2005
32
Oxidative stress in myotonic dystrophy type 1. 38
16036357 2005
33
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity. 38
16207136 2005
34
Myotonic dystrophy type 2 and related myotonic disorders. 38
15503094 2004
35
Treatment in myotonia and periodic paralysis. 38
15269662 2004
36
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. 38
12699527 2003
37
Malignant hyperthermia and myotonic disorders. 38
12298310 2002
38
[Myotonic dystrophy (DM/Curschmann-Steinert disease) and proximal myotonic myopathy (PROMM/Ricker syndrome). Myotonic muscle diseases with multisystemic manifestations]. 38
11519202 2001
39
Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. 38
11547948 2001
40
Effects of temperature on neuromuscular electrophysiology. 38
11410914 2001
41
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. 38
11113225 2000
42
Clinical and genetic heterogeneity in myotonic dystrophies. 38
11102902 2000
43
Myotonic dystrophies. 38
11073357 2000
44
Therapy in myotonic disorders and in muscle channelopathies. 38
11382195 2000
45
Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies. 38
10467912 1999
46
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 38
10227633 1999
47
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). 38
10063831 1999
48
Familial cramp due to potassium-aggravated myotonia. 38
9771789 1998
49
Phenotype and genotype in the myotonic disorders. 38
9703436 1998
50
Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? 38
9196902 1997

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 cytoplasmic stress granule GO:0010494 9.26 MBNL1 C9orf72
2 calcium channel complex GO:0034704 9.16 RYR1 ATP2A1
3 sarcoplasmic reticulum GO:0016529 9.13 RYR1 DMPK ATP2A1
4 sarcoplasmic reticulum membrane GO:0033017 8.8 RYR1 DMPK ATP2A1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.62 SCN4A RYR1 CLCN1 ATP2A1
2 ion transmembrane transport GO:0034220 9.54 RYR1 CLCN1 ATP2A1
3 muscle contraction GO:0006936 9.33 SCN4A RYR1 CLCN1
4 regulation of RNA splicing GO:0043484 9.26 MBNL3 MBNL1
5 cellular calcium ion homeostasis GO:0006874 9.13 RYR1 DMPK ATP2A1
6 regulation of cardiac conduction GO:1903779 8.8 RYR1 DMPK ATP2A1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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