MCID: MYT011
MIFTS: 38

Myotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Myotonia

MalaCards integrated aliases for Myotonia:

Name: Myotonia 53 29 6 39

Classifications:



Summaries for Myotonia

NINDS : 53 Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired.  It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.

MalaCards based summary : Myotonia is related to myotonia congenita and paramyotonia congenita of von eulenburg. An important gene associated with Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Phase 0 - rapid depolarisation. The drugs Lamotrigine and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, thyroid and tongue, and related phenotype is muscle.

Wikipedia : 73 Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed... more...

Related Diseases for Myotonia

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

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 32.4 SCN4A GH-LCR CNBP CLCN1
2 paramyotonia congenita of von eulenburg 32.4 SCN4A GH-LCR CLCN1
3 neuromyotonia and axonal neuropathy, autosomal recessive 31.9 HINT1 CNBP
4 hyperkalemic periodic paralysis 31.8 SCN4A GH-LCR CNBP CLCN1
5 myotonic dystrophy 31.8 MBNL1 DMPK CNBP CLCN1
6 myotonic dystrophy 1 31.1 MBNL1 DMPK CNBP CLCN1
7 myotonic dystrophy 2 30.9 SCN4A MBNL1 DMPK CNBP CLCN1
8 hypokalemic periodic paralysis, type 1 30.9 SCN7A SCN4A GH-LCR CLCN1
9 muscle hypertrophy 30.7 SCN4A CLCN1
10 periodic paralyses 30.4 SCN4A GH-LCR
11 muscular dystrophy 29.9 SCN4A MBNL1 HSPG2 DMPK CLCN1
12 isolated elevated serum creatine phosphokinase levels 29.7 SCN4A CLCN1
13 hypokalemic periodic paralysis, type 2 29.7 SCN7A SCN4A GH-LCR
14 myotonic disease 29.6 SCN4A MBNL1 DMPK CNBP CLCN1
15 familial periodic paralysis 29.6 SCN4A GH-LCR CLCN1
16 congenital myasthenic syndrome 29.4 SCN4A HSPG2 GH-LCR CLCN1
17 neuromuscular disease 29.4 SCN4A MBNL1 DMPK CNBP CLCN1
18 brugada syndrome 29.4 SCN7A SCN4A GH-LCR
19 normokalemic periodic paralysis 29.3 SCN7A SCN4A GH-LCR
20 myopathy 29.3 SCN4A MBNL1 HSPG2 GH-LCR DMPK CNBP
21 muscular disease 28.9 MBNL1 DMPK CNBP CLCN1
22 charcot-marie-tooth disease 28.7 SCN4A HINT1 GH-LCR CLCN1
23 myotonia, potassium-aggravated 12.0
24 myotonia congenita, autosomal dominant 11.7
25 myotonia congenita, autosomal recessive 11.7
26 schwartz-jampel syndrome, type 1 11.5
27 nondystrophic myotonia 11.5
28 thomsen's myotonia 11.3
29 becker's myotonia 11.2
30 richieri costa da silva syndrome 11.2
31 myotonia with skeletal abnormalities and mental retardation 11.0
32 cylindrical spirals myopathy 11.0
33 batten-turner congenital myopathy 10.9
34 myopathy, granulovacuolar lobular, with electrical myotonia 10.9
35 endomyocardial fibrosis 10.7
36 periodic paralysis 10.5
37 muscular atrophy 10.3
38 cataract 10.2
39 myasthenia gravis 10.2
40 hypothyroidism 10.2
41 malignant hyperthermia 10.2
42 seizures, benign familial neonatal, 1 10.1
43 myxedema 10.1
44 myasthenic syndrome, congenital, 16 10.1 SCN4A GH-LCR
45 joubert syndrome 17 10.1 SCN4A GH-LCR
46 andersen cardiodysrhythmic periodic paralysis 10.1 SCN4A CLCN1
47 centronuclear myopathy 10.1
48 blepharospasm 10.1
49 myositis 10.0
50 muscular dystrophy, duchenne type 10.0

Graphical network of the top 20 diseases related to Myotonia:



Diseases related to Myotonia

Symptoms & Phenotypes for Myotonia

MGI Mouse Phenotypes related to Myotonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CLCN1 DMPK HSPG2 MBNL1 SCN4A

Drugs & Therapeutics for Myotonia

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2 Psychotropic Drugs Phase 3
3 Anticonvulsants Phase 3
4 Antipsychotic Agents Phase 3
5 Hormones Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8
Calcium Nutraceutical Phase 3 7440-70-2 271
9
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
10
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
11
Mexiletine Approved, Investigational 31828-71-4 4178
12 Sodium Channel Blockers
13 Diuretics, Potassium Sparing
14 Anti-Arrhythmia Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
4 Combining N-of-1 Trials to Estimate Population Clinical and Cost-effectiveness of Drugs Using Bayesian Hierarchical Modeling. The Case of Mexiletine for Patients With Non- Dystrophic Myotonia. Completed NCT02045667 Phase 2 Mexiletine;Placebo
5 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
6 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
7 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Completed NCT03603171
8 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
9 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
10 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366
11 Myotonia, Muscle Stiffness and Elasticity in Neuromuscular Disorders Recruiting NCT04411732
12 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
13 Myotonic Dystrophy Family Registry Recruiting NCT02398786
14 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

Search NIH Clinical Center for Myotonia

Genetic Tests for Myotonia

Genetic tests related to Myotonia:

# Genetic test Affiliating Genes
1 Myotonia 29

Anatomical Context for Myotonia

MalaCards organs/tissues related to Myotonia:

40
Skeletal Muscle, Thyroid, Tongue, Eye, Lymph Node, Cortex, Smooth Muscle

Publications for Myotonia

Articles related to Myotonia:

(show top 50) (show all 2337)
# Title Authors PMID Year
1
The hallmarks of myotonic dystrophy type 1 muscle dysfunction. 61
33269537 2021
2
Effect of exercise training on functional capacity and body composition in myotonic dystrophy type 2 patients. 61
33373039 2021
3
Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy. 61
33473325 2021
4
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. 61
33682722 2021
5
Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients. 61
33595997 2021
6
Successful treatment of a child with Schwartz-Jampel syndrome using rapid maxillary expansion and CPAP. 61
33231165 2021
7
A DM1 patient with CCG variant repeats: Reaching the diagnosis. 61
33546847 2021
8
Effectiveness and safety of electroacupuncture in treating Parkinson disease: A protocol for systematic review and meta-analyses. 61
33725902 2021
9
The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1. 61
32929188 2021
10
Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy. 61
33503262 2021
11
Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin. 61
33673200 2021
12
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. 61
33670307 2021
13
Medial clavicle fracture with bone destruction after radical neck dissection combined with postoperative chemotherapy for secondary cervical lymph node metastasis of tongue cancer: a case report. 61
33576918 2021
14
Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia. 61
33498617 2021
15
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. 61
33464536 2021
16
Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial. 61
33046619 2021
17
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. 61
33507632 2021
18
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome. 61
33767660 2021
19
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease. 61
33762787 2021
20
Neurological complications of cardiomyopathies. 61
33632460 2021
21
The prevalence of hereditary neuromuscular disorders in Northern Norway. 61
33185984 2021
22
A case of paramyotonia congenita in pregnancy. 61
33343696 2020
23
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. 61
33263785 2020
24
Adolph Seeligmüller's contribution to myotonia congenita Thomsen. 61
33221127 2020
25
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. 61
33246886 2020
26
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. 61
33304817 2020
27
Oral findings and craniofacial morphology in a patient with Schwartz-Jampel syndrome and severe obstructive sleep apnea: A case report. 61
33363777 2020
28
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I. 61
33291833 2020
29
The Dimeric Form of 1,3-Diaminoisoquinoline Derivative Rescued the Mis-splicing of Atp2a1 and Clcn1 Genes in Myotonic Dystrophy Type 1 Mouse Model. 61
32449537 2020
30
Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1. 61
33135946 2020
31
An Unusual Mutation in Myotonia Congenita. 61
33531161 2020
32
The roles of mitochondrial tRNA mutations in non-dystrophic myotonias. 61
33367105 2020
33
Multi-stimuli controlled release of a transmembrane chloride ion carrier from a sulfonium-linked procarrier. 61
33150918 2020
34
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. 61
32619119 2020
35
Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up. 61
32525073 2020
36
Correction to: Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation. 61
32885305 2020
37
Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation. 61
32748018 2020
38
Herbal Resources to Combat a Progressive & Degenerative Nervous System Disorder - Parkinson's Disease. 61
33050857 2020
39
Guidelines on clinical presentation and management of nondystrophic myotonias. 61
32270509 2020
40
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. 61
33092578 2020
41
How to capture activities of daily living in myotonic dystrophy type 2? 61
32888768 2020
42
Improved grip myotonia in a patient with myotonic dystrophy type 1 following electroacupuncture therapy: A CARE-compliant case report. 61
32925721 2020
43
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy. 61
32805487 2020
44
Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy. 61
33033573 2020
45
Diabetes, metformin and cancer risk in myotonic dystrophy type I. 61
31749144 2020
46
TRPV4 Antagonism Prevents Mechanically Induced Myotonia. 61
32418267 2020
47
A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia. 61
32826616 2020
48
Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome. 61
32738848 2020
49
Skeletal muscle ClC-1 chloride channels in health and diseases. 61
32361781 2020
50
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. 61
32142633 2020

Variations for Myotonia

ClinVar genetic disease variations for Myotonia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) SNV Pathogenic 374131 rs1057518917 GRCh37: 7:143048726-143048726
GRCh38: 7:143351633-143351633
2 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) SNV Pathogenic 17539 rs80356690 GRCh37: 7:143027881-143027881
GRCh38: 7:143330788-143330788
3 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) SNV Pathogenic 374058 rs1057518865 GRCh37: 17:62034803-62034803
GRCh38: 17:63957443-63957443
4 CLCN1 NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) SNV Likely pathogenic 523317 rs1554436510 GRCh37: 7:143028372-143028372
GRCh38: 7:143331279-143331279
5 CLCN1 NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs) Duplication Likely pathogenic 523318 rs1554438441 GRCh37: 7:143039099-143039100
GRCh38: 7:143342006-143342007
6 CLCN1 NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) SNV Likely pathogenic 209138 rs149729531 GRCh37: 7:143018525-143018525
GRCh38: 7:143321432-143321432
7 SCN4A NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) SNV Uncertain significance 373945 rs121908552 GRCh37: 17:62041947-62041947
GRCh38: 17:63964587-63964587
8 OPA1-AS1 , OPA1 NM_130837.2(OPA1):c.679-4G>T SNV Uncertain significance 523555 rs757018661 GRCh37: 3:193343877-193343877
GRCh38: 3:193626088-193626088
9 RYR1 NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg) SNV Uncertain significance 373917 rs1057518768 GRCh37: 19:38958273-38958273
GRCh38: 19:38467633-38467633
10 CLCN1 NM_000083.3(CLCN1):c.774G>A (p.Glu258=) SNV Uncertain significance 636302 rs770605959 GRCh37: 7:143020479-143020479
GRCh38: 7:143323386-143323386

Expression for Myotonia

Search GEO for disease gene expression data for Myotonia.

Pathways for Myotonia

Pathways related to Myotonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 SCN7A SCN4A CLCN1
2
Show member pathways
11.03 SCN7A SCN4A
3 10.1 SCN7A SCN4A

GO Terms for Myotonia

Cellular components related to Myotonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 8.62 SCN7A SCN4A

Biological processes related to Myotonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.33 SCN7A SCN4A CLCN1
2 neuronal action potential GO:0019228 9.26 SCN7A SCN4A
3 membrane depolarization during action potential GO:0086010 8.96 SCN7A SCN4A
4 muscle contraction GO:0006936 8.8 SCN7A SCN4A CLCN1

Molecular functions related to Myotonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.26 SCN7A SCN4A
2 sodium channel activity GO:0005272 9.16 SCN7A SCN4A
3 voltage-gated sodium channel activity GO:0005248 8.96 SCN7A SCN4A
4 voltage-gated ion channel activity GO:0005244 8.8 SCN7A SCN4A CLCN1

Sources for Myotonia

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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