MCID: MYT003
MIFTS: 35

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 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:450
ICD9CM 34 359.2
NCIt 49 C84913
SNOMED-CT 67 193237003
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 myotonic dystrophy 2 and myotonia, 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 brain, heart and skeletal muscle, 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 61)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 30.3 YIPF7 SCN4A MBNL3 MBNL2 MBNL1 DMPK
2 myotonia 30.2 SCN4A DMPK CNBP CLCN1
3 hyperkalemic periodic paralysis 30.1 SCN4A DMPK CNBP CLCN1 CCT3
4 paramyotonia congenita of von eulenburg 29.8 SCN4A DMPK CNBP CLCN1
5 myotonia congenita 29.7 SCN4A DMPK CNBP CLCN1 CCT3
6 myotonic dystrophy 29.7 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
7 myotonic dystrophy 1 29.5 YIPF7 SIX5 MIR675 MIR33A MBNL3 MBNL2
8 myopathy 29.4 SCN4A MBNL1 DMPK CNBP CLCN1 ATP2A1
9 muscular dystrophy 29.4 SCN4A MBNL1 DMPK CLCN1 CELF1 ATP2A1
10 cataract 29.3 SIX5 MBNL1 ERCC6 DMPK CNBP
11 neuromuscular disease 28.6 SCN4A MBNL2 MBNL1 ERCC6 DMPK CNBP
12 myotonia, potassium-aggravated 11.5
13 richieri costa da silva syndrome 11.2
14 atrophic muscular disease 10.4 MBNL1 ATP2A1
15 schwartz-jampel syndrome, type 1 10.4
16 brody myopathy 10.3 MBNL1 CLCN1 ATP2A1
17 familial periodic paralysis 10.3 SCN4A CNBP CLCN1
18 expressive language disorder 10.2 ERCC6 CEBPD
19 spinocerebellar ataxia 10 10.2 DMPK CNBP CCT3 ATXN10
20 episodic ataxia, type 1 10.2
21 episodic ataxia 10.2
22 spinocerebellar ataxia 31 10.2 C9orf72 ATXN10
23 spinocerebellar ataxia 36 10.1 C9orf72 ATXN10
24 fuchs' endothelial dystrophy 10.1 MBNL3 MBNL2 MBNL1 DMPK C9orf72
25 huntington disease-like 2 10.1 MBNL1 DMPK CNBP CELF1 CCT3 ATXN10
26 lens disease 10.1 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
27 peripheral nervous system disease 10.1 SCN4A ERCC6 DMPK CNBP
28 ptosis 10.0 SCN4A ERCC6 DMPK CLCN1
29 fragile x-associated tremor/ataxia syndrome 10.0 MBNL1 DMPK CNBP CELF1 C9orf72 ATXN10
30 spinal and bulbar muscular atrophy, x-linked 1 10.0 MBNL1 ERCC6 DMPK CELF2 C9orf72
31 muscular disease 9.9 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
32 muscle tissue disease 9.9 MIR675 MBNL1 ERCC6 DMPK CNBP CLCN1
33 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.9 ERCC6 C9orf72
34 x-linked hereditary ataxia 9.9 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
35 malignant hyperthermia 9.9
36 myxedema 9.8
37 autosomal dominant cerebellar ataxia 9.8 MBNL1 ERCC6 DMPK CNBP CCT3 C9orf72
38 spinocerebellar ataxia 8 9.8 MBNL2 MBNL1 DMPK CNBP CELF1 CCT3
39 cardiac arrhythmia 9.7
40 frontotemporal dementia 9.7
41 visual epilepsy 9.7
42 muscular atrophy 9.7
43 diabetes insipidus 9.7
44 periodic paralyses 9.7
45 seizure disorder 9.7
46 strabismus 9.7
47 monocular esotropia 9.7
48 mechanical strabismus 9.7
49 esotropia 9.7
50 thomsen's myotonia 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 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 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 Sodium Channel Blockers Phase 3
6 Diuretics, Potassium Sparing Phase 3
7 Hormones Phase 3
8 Psychotropic Drugs Phase 3
9 Antipsychotic Agents Phase 3
10 Anticonvulsants Phase 3
11 Calcium, Dietary Phase 3
12 calcium channel blockers 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:


# 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 Syndrome 29

Anatomical Context for Myotonic Disease

MalaCards organs/tissues related to Myotonic Disease:

40
Brain, Heart, Skeletal Muscle, Pituitary

Publications for Myotonic Disease

Articles related to Myotonic Disease:

(show all 42)
# Title Authors PMID Year
1
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation. 61
32129495 2020
2
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 61
31054108 2019
3
Clinical electrophysiology of muscle diseases and episodic muscle disorders. 61
31307605 2019
4
An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease. 61
28552867 2017
5
Schwartz-Jampel syndrome. 61
26167227 2015
6
Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. 61
20635151 2011
7
[Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. 61
16557171 2006
8
[Characteristics of bioelectrical activity of the brain in children with different forms of consequences of CNS perinatal damage]. 61
16737160 2006
9
Advanced oxidation protein products in serum of patients with myotonic disease type I: association with serum gamma-glutamyltransferase and disease severity. 61
16207136 2005
10
[Myotonic syndrome]. 61
11808282 2001
11
Familial cramp due to potassium-aggravated myotonia. 61
9771789 1998
12
Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. 61
8902732 1996
13
Hereditary nondystrophic myotonias and periodic paralyses. 61
8542048 1995
14
[Muscle relaxation in patients with neuromuscular diseases]. 61
8042756 1994
15
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. 61
8215982 1993
16
[Japanese clinical statistical data of myotonic syndrome]. 61
1344351 1992
17
[Myotonic syndrome]. 61
2402066 1990
18
Myotonia levior: contribution to the nosography. 61
3231989 1988
19
Neurologic complications after gastric restriction surgery for morbid obesity. 61
3027610 1987
20
[A case of unusual myotonic syndrome associated with tubular aggregation and nemaline rods in muscle biopsy in an aged patient]. 61
3829518 1986
21
20,25-diazacholesterol myotonia: an electrophysiological study. 61
7294732 1981
22
[Clinical picture and diagnosis of a myotonic syndrome in children resulting from birth injury]. 61
7315026 1981
23
Pilomatricomas associated with myotonic dystrophy. 61
686751 1978
24
Muscle membrane chloride conductance and the myotonic syndromes. 61
285855 1978
25
[Correlation of the myotonic syndrome in dystrophic and congenital myotonia]. 61
754021 1978
26
[Familial myotonic syndrome with hyposthenia corrected with exercise (author's transl)]. 61
1032032 1976
27
[Current aspects of the myotonic syndromes]. 61
1214148 1975
28
[Myopathia myotonica. A new type of hereditary muscle disease (author's transl)]. 61
51068 1975
29
[Electromyographic and neurographic study of the after spasm phenomenon in the myotonic syndrome. Preliminary note]. 61
5049875 1972
30
A myotonic syndrome associated with Klinefelter's syndrome. 61
6082911 1967
31
[On the problem of the status of neuromuscular transmission in myotonic disease]. 61
4300283 1966
32
THE HEART IN MYOTONIC DISEASE. 61
14221658 1964
33
[STEINERT'S DISEASE AND THOMSEN'S DISEASE (MYOTONIC SYNDROME)]. 61
14298695 1964
34
[THYMIC TUMOR AND MYOTONIC SYNDROME. APROPOS OF A CASE]. 61
14124108 1964
35
[Clinical, humoral and histological studies of a case of myotonic syndrome. On the relation between Thomsen's disease, congenital paramyotonia and myotonic dystrophy]. 61
13925342 1962
36
[Contributions of electromyography in the myotonic syndrome in pediatrics]. 61
14490111 1961
37
[Experimental therapy of myotonic syndrome with prednisone (ultracorten Ciba)]. 61
13663100 1959
38
[Atypical familial myotonic syndrome; clinical & electromyographic studies]. 61
13602931 1958
39
[Myotonic syndrome in chronic poisoning with carbon disulfide]. 61
13334744 1956
40
[Myotonic syndrome during post-traumatic pituitary myxedema in an adult]. 61
13323801 1955
41
[Observations on certain cases of myotonic syndrome]. 61
13183362 1954
42
[Postoperative myxedema with a myotonic syndrome]. 61
13071206 1953

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 RNA splicing GO:0008380 9.56 MBNL3 MBNL2 MBNL1 CELF1
2 mRNA processing GO:0006397 9.55 MBNL3 MBNL2 MBNL1 CELF2 CELF1
3 mRNA splice site selection GO:0006376 9.32 CELF2 CELF1
4 regulation of RNA splicing GO:0043484 9.26 MBNL3 MBNL2 MBNL1 CELF1
5 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 9.5 MBNL3 MBNL2 MBNL1 CNBP CELF2 CELF1
2 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
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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