MCID: MYT011
MIFTS: 42

Myotonia

Categories: Muscle diseases, Neuronal diseases
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Aliases & Classifications for Myotonia

MalaCards integrated aliases for Myotonia:

Name: Myotonia 52 28 5 38 75

Classifications:



Summaries for Myotonia

NINDS: 52 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, potassium-aggravated and neuromyotonia and axonal neuropathy, autosomal recessive. 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 G-Beta Gamma Signaling. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and occipital lobe, and related phenotypes are growth/size/body region and muscle

Wikipedia: 75 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 296)
# Related Disease Score Top Affiliating Genes
1 myotonia, potassium-aggravated 33.3 SCN4A GH-LCR
2 neuromyotonia and axonal neuropathy, autosomal recessive 32.6 HINT1 CNBP
3 myotonia congenita 32.1 SCN4A PRRT2 MSTN LOC108644431 DMPK CNBP
4 myotonic dystrophy 1 32.0 MBNL1 DMPK DMD CNBP CLCN1
5 paramyotonia congenita of von eulenburg 32.0 SCN8A SCN4A GH-LCR CNBP CLCN1
6 batten-turner congenital myopathy 31.8 SCN4A DMD CLCN1
7 hyperkalemic periodic paralysis 31.8 SCN8A SCN4A GH-LCR CNBP CLCN1
8 myotonic disease 31.5 SCN4A MBNL1 DMPK CNBP CLCN1
9 myotonic dystrophy 2 31.2 SCN4A MBNL1 LOC108644431 DMPK CNBP CLCN1
10 hypokalemic periodic paralysis, type 1 30.9 SCN8A SCN7A SCN4A GH-LCR CLCN1
11 muscular dystrophy 30.6 MSTN HSPG2 DMPK DMD CLCN1
12 malignant hyperthermia 30.4 SCN7A SCN4A DMD
13 hypokalemic periodic paralysis, type 2 30.3 SCN7A SCN4A GH-LCR
14 isolated elevated serum creatine phosphokinase levels 30.2 SCN4A DMD CLCN1
15 congenital myasthenic syndrome 30.0 SCN4A HSPG2 DMD CLCN1
16 normokalemic periodic paralysis 30.0 SCN7A SCN4A
17 familial periodic paralysis 29.9 SCN4A CLCN1
18 muscular dystrophy, congenital, lmna-related 29.5 MSTN HSPG2 DMPK DMD
19 spinal and bulbar muscular atrophy, x-linked 1 29.4 MBNL1 DMPK CNBP
20 neuromuscular disease 29.4 SCN4A PMP22 MSTN MBNL1 DMPK DMD
21 brugada syndrome 29.3 SCN8A SCN7A SCN4A PSMC4 DMD CALM1
22 myopathy 29.2 SCN4A MSTN MBNL1 LOC108644431 GH-LCR DMPK
23 generalized epilepsy with febrile seizures plus 29.2 SCN8A SCN7A SCN4A PRRT2
24 episodic ataxia 29.1 SCN8A PRRT2 PMP22
25 muscular disease 28.8 MSTN MBNL1 DMPK DMD CNBP CLCN1
26 peripheral nervous system disease 28.3 SCN8A SCN4A PMP22 MBNL1 HINT1 DMPK
27 myotonia congenita, autosomal dominant 11.7
28 myotonia congenita, autosomal recessive 11.7
29 schwartz-jampel syndrome, type 1 11.6
30 richieri costa da silva syndrome 11.4
31 nondystrophic myotonia 11.2
32 cylindrical spirals myopathy 11.1
33 periodic paralysis 11.1
34 myopathy, granulovacuolar lobular, with electrical myotonia 10.9
35 myotonia with skeletal abnormalities and mental retardation 10.9
36 endomyocardial fibrosis 10.7
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
38 muscle hypertrophy 10.5
39 myasthenia gravis 10.4
40 cataract 10.4
41 muscular atrophy 10.3
42 hypokalemia 10.3
43 common cold 10.3
44 immature cataract 10.3 DMPK CNBP
45 hypothyroidism 10.2
46 diamond-blackfan anemia 3 10.2 SCN4A CALM1
47 tremor, hereditary essential, 6 10.2 SCN4A GH-LCR
48 seizures, benign familial neonatal, 1 10.1
49 myxedema 10.1
50 respiratory failure 10.1

Graphical network of the top 20 diseases related to Myotonia:



Diseases related to Myotonia

Symptoms & Phenotypes for Myotonia

MGI Mouse Phenotypes related to Myotonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 CALM1 CLCN1 CNBP DMD G6PC3 HINT1
2 muscle MP:0005369 10 CLCN1 DMD DMPK HSPG2 MBNL1 MSTN
3 behavior/neurological MP:0005386 9.73 CALM1 CLCN1 CNBP DMD HSPG2 MBNL1
4 skeleton MP:0005390 9.28 CLCN1 CNBP DMD HSPG2 MBNL1 MSTN

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
Mexiletine Approved, Investigational Phase 3 5370-01-4, 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Anti-Arrhythmia Agents Phase 3
4 Sodium Channel Blockers Phase 3
5 Diuretics, Potassium Sparing Phase 3
6 Hormones Phase 3
7 Antipsychotic Agents Phase 3
8 Psychotropic Drugs Phase 3
9 Calcium, Dietary Phase 3
10 Anticonvulsants Phase 3
11 calcium channel blockers Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
14
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
2 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 A Phase III, Randomised, Double Blinded, Head-to-head, Single-site, Cross-over Trial of Lamotrigine Versus Mexiletine for Non-dystrophic Myotonias Recruiting NCT05017155 Phase 3 Mexiletine;Lamotrigine 25Mg Oral Tablet, Extended Release
4 Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
5 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
6 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
7 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
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 Myotonic Dystrophy Family Registry Recruiting NCT02398786
11 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366
12 Treatment of Myotonia - Lamotrigine Versus Namuscla Recruiting NCT05639257 Lamotrigine;Namuscla
13 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
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
15 Myotonia, Muscle Stiffness and Elasticity in Neuromuscular Disorders Active, not recruiting NCT04411732

Search NIH Clinical Center for Myotonia

Genetic Tests for Myotonia

Genetic tests related to Myotonia:

# Genetic test Affiliating Genes
1 Myotonia 28

Anatomical Context for Myotonia

Organs/tissues related to Myotonia:

MalaCards : Skeletal Muscle, Heart, Occipital Lobe, Brain, Thyroid, Lymph Node, Adrenal Cortex

Publications for Myotonia

Articles related to Myotonia:

(show top 50) (show all 2436)
# Title Authors PMID Year
1
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. 62
35971866 2022
2
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. 62
35907044 2022
3
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review. 62
35170402 2022
4
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies. 62
36382348 2022
5
Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review. 62
36036670 2022
6
Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory. 62
36150530 2022
7
Clinical score for early diagnosis of myotonic dystrophy type 2. 62
36401657 2022
8
[Dystrophia myotonica Type 1 associated with glioblastoma: a case report]. 62
36288964 2022
9
[Retrospective study on clinical manifestation, thigh MRI and electrophysiology characteristics of immune-mediated necrotizing myopathy]. 62
36207969 2022
10
Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia. 62
36050252 2022
11
Acute myotonic reaction during succinylcholine anaesthesia. 62
36192135 2022
12
[On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller]. 62
34448176 2022
13
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. 62
36207221 2022
14
Remote assessment of myotonic dystrophy type 1: A feasibility study. 62
35426155 2022
15
Non-dystrophic myotonia: 2-year clinical and patient reported outcomes. 62
35644941 2022
16
Clinical Features and Management of Seizure After Percutaneous Endoscopic Spine Surgery: A Retrospective Case Series Analysis. 62
36041725 2022
17
[Rhabdomyolysis - the chamaeleon of the intensive care unit]. 62
35896388 2022
18
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. 62
35866763 2022
19
Correction: Grip myotonia. 62
35798500 2022
20
The effect of methocarbamol and mexiletine on murine muscle spindle function. 62
35373353 2022
21
Myotonic dystrophy type 1 presenting with dyspnea: A case report. 62
36051128 2022
22
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. 62
35815860 2022
23
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia. 62
36381256 2022
24
Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1. 62
33135946 2022
25
Cutaneous findings in myotonic dystrophy. 62
35243403 2022
26
[Myotonia-rectified bone-conducted vibration vestibular evoked myogenic potential in normal adults]. 62
35822357 2022
27
An unusual mutation in myotonia congenita. 62
33531161 2022
28
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes. 62
35436004 2022
29
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles. 62
35339342 2022
30
Development of high-affinity nanobodies specific for NaV1.4 and NaV1.5 voltage-gated sodium channel isoforms. 62
35202650 2022
31
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy. 62
35305880 2022
32
External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1. 62
35442941 2022
33
Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert's disease) - a case report. 62
35851789 2022
34
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. 62
34529042 2022
35
A rare case report of severe cardiomyopathy associated with myotonic dystrophy type 2. 62
35350724 2022
36
Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model. 62
35282418 2022
37
Targeting Myotonic Dystrophy Type 1 with Metformin. 62
35270043 2022
38
Myotonia in MuSK Myasthenia Gravis: A Unique Electrodiagnostic Finding. 62
35188919 2022
39
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. 62
35026467 2022
40
Speech and language abnormalities in myotonic dystrophy: An overview. 62
34789418 2022
41
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1. 62
35164706 2022
42
Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. 62
34636138 2022
43
Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease. 62
35001896 2022
44
Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1. 62
36338967 2022
45
Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease). 62
35528770 2022
46
Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts. 62
35008948 2022
47
Characteristics of myotonic dystrophy patients in the national registry of Japan. 62
34923335 2022
48
Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis. 62
35483324 2022
49
Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing. 62
35019138 2022
50
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. 62
34996390 2022

Variations for Myotonia

ClinVar genetic disease variations for Myotonia:

5
# 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) DUP 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 RYR1 NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg) SNV Uncertain Significance
373917 rs1057518768 GRCh37: 19:38958273-38958273
GRCh38: 19:38467633-38467633
8 OPA1-AS1, OPA1 NM_130837.3(OPA1):c.679-4G>T SNV Uncertain Significance
523555 rs757018661 GRCh37: 3:193343877-193343877
GRCh38: 3:193626088-193626088
9 SCN4A NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) SNV Uncertain Significance
373945 rs121908552 GRCh37: 17:62041947-62041947
GRCh38: 17:63964587-63964587

Expression for Myotonia

Search GEO for disease gene expression data for Myotonia.

Pathways for Myotonia

GO Terms for Myotonia

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.65 SCN8A SCN7A SCN4A PRRT2 PRKAA1 DMD
2 voltage-gated sodium channel complex GO:0001518 9.1 SCN8A SCN7A SCN4A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of monoatomic ion transmembrane transport GO:0034765 9.76 SCN8A SCN7A SCN4A CLCN1
2 neuronal action potential GO:0019228 9.43 SCN8A SCN7A SCN4A
3 membrane depolarization during action potential GO:0086010 9.1 SCN8A SCN7A SCN4A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated monoatomic ion channel activity GO:0005244 9.7 SCN8A SCN7A SCN4A CLCN1
2 monoatomic cation channel activity GO:0005261 9.43 SCN8A SCN7A SCN4A
3 voltage-gated sodium channel activity GO:0005248 9.43 SCN8A SCN7A SCN4A
4 sodium channel activity GO:0005272 8.8 SCN8A SCN7A SCN4A

Sources for Myotonia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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