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MCID: MYT011
MIFTS: 37

Myotonia

Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Myotonia

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MalaCards integrated aliases for Myotonia:

Name: Myotonia 54 29 6 40

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
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Summaries for Myotonia

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NINDS : 54 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 hyperkalemic periodic paralysis. An important gene associated with Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Lamotrigine and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are hearing/vestibular/ear and muscle

Wikipedia : 75 Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed... more...

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Related Diseases for Myotonia

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 33.6 SCN4A CNBP CLCN1
2 hyperkalemic periodic paralysis 33.2 SCN4A CLCN1
3 myotonic dystrophy 32.6 DMPK CNBP CLCN1
4 hypokalemic periodic paralysis, type 1 31.8 SCN4A CLCN1
5 myotonic dystrophy 1 31.8 DMPK CNBP CLCN1
6 myotonic dystrophy 2 31.1 SCN4A DMPK CNBP CLCN1
7 familial periodic paralysis 29.6 SCN4A CLCN1
8 neuromuscular disease 29.5 SCN4A DMPK
9 myotonic disease 29.2 SCN4A DMPK CNBP CLCN1
10 muscular disease 27.5 SCN4A HSPG2 DMPK CNBP CLCN1
11 myotonia, potassium-aggravated 13.0
12 myotonia congenita, autosomal dominant 12.7
13 myotonia congenita, autosomal recessive 12.7
14 nondystrophic myotonia 12.7
15 thomsen's myotonia 12.5
16 becker's myotonia 12.5
17 myotonia atrophica 12.3
18 paramyotonia congenita of von eulenburg 12.3
19 myotonia with skeletal abnormalities and mental retardation 12.3
20 myopathy, granulovacuolar lobular, with electrical myotonia 12.3
21 schwartz-jampel syndrome, type 1 12.2
22 neuromyotonia and axonal neuropathy, autosomal recessive 12.2
23 richieri costa da silva syndrome 11.7
24 myopathy, congenital 11.5
25 cylindrical spirals myopathy 11.1
26 periodic paralysis 10.7
27 myopathy 10.7
28 muscular dystrophy 10.6
29 muscle hypertrophy 10.6
30 periodic paralyses 10.5
31 cataract 10.5
32 muscular atrophy 10.4
33 malignant hyperthermia 10.4
34 myasthenia gravis 10.3
35 hypothyroidism 10.3
36 seizures, benign familial neonatal, 1 10.3
37 myxedema 10.2
38 blepharospasm 10.2
39 muscular dystrophy, duchenne type 10.1
40 ptosis 10.1
41 respiratory failure 10.1
42 endomyocardial fibrosis 10.1
43 centronuclear myopathy 10.1
44 dwarfism 10.1
45 dysphagia 10.1
46 progressive muscular dystrophy 10.1
47 myositis 10.1
48 pyle disease 10.1
49 ataxia and polyneuropathy, adult-onset 10.1
50 rippling muscle disease 2 10.1

Graphical network of the top 20 diseases related to Myotonia:



Diseases related to Myotonia
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Symptoms & Phenotypes for Myotonia

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MGI Mouse Phenotypes related to Myotonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 CLCN1 HSPG2
2 muscle MP:0005369 8.92 CLCN1 DMPK HSPG2 SCN4A
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Drugs & Therapeutics for Myotonia

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
3
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
5
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
6
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
7 Sodium Channel Blockers Phase 3
8 Diuretics, Potassium Sparing Phase 3
9 Tranquilizing Agents Phase 3
10 Hormones Phase 3
11 Central Nervous System Depressants Phase 3
12 Antipsychotic Agents Phase 3
13 Psychotropic Drugs Phase 3
14 Calcium, Dietary Phase 3
15 Anticonvulsants Phase 3
16 calcium channel blockers Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Immunologic Factors Phase 2, Phase 3
19 Adjuvants, Immunologic Phase 2, Phase 3
20 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
21 Neurotransmitter Agents Phase 2, Phase 3
22 Central Nervous System Stimulants Phase 2, Phase 3
23 Dopamine Agents Phase 2, Phase 3
24 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
25 Dopamine Uptake Inhibitors Phase 2, Phase 3
26
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
27
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show all 21)
# 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 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
5 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
6 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
7 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
8 Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
9 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
10 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
11 Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia Completed NCT02161835
12 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
13 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
14 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
15 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
16 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Recruiting NCT03603171
17 Myotonic Dystrophy Family Registry Recruiting NCT02398786
18 Application of Methodology of Non-invasive Stimulated Muscle Force Assessment to ICU Patients and Patients With Primary Myopathies to Characterize Their Muscle Weakness - Extension of the Study Protocol: 2008 to 2018 Recruiting NCT00735384
19 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
20 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
21 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Active, not recruiting NCT02831504

Search NIH Clinical Center for Myotonia

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Genetic Tests for Myotonia

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Genetic tests related to Myotonia:

# Genetic test Affiliating Genes
1 Myotonia 29
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Anatomical Context for Myotonia

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MalaCards organs/tissues related to Myotonia:

41
Skeletal Muscle, Testes, Heart, Brain, Lung, Bone, Thyroid
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Publications for Myotonia

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Articles related to Myotonia:

(show top 50) (show all 2189)
# Title Authors PMID Year
1
Analgesia and Anaesthesia Management of Labour and Caesarean Delivery for a Parturient with Paramyotonia Congenita. 38
31380517 2019
2
MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. 38
30997488 2019
3
A case report of psychiatric symptoms following direct-acting antiviral and ribavirin combination therapy for chronic hepatitis C in a patient with innate anxiety. 38
31195993 2019
4
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. 38
31189464 2019
5
Treatment of myotonia congenita with retigabine in mice. 38
30738808 2019
6
Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. 38
31216016 2019
7
[I1363T mutation induces the defects in fast inactivation of human skeletal muscle voltage-gated sodium channel]. 38
31102352 2019
8
Structure of the human ClC-1 chloride channel. 38
31022181 2019
9
Brody disease: when myotonia is not myotonia. 38
30996034 2019
10
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. 38
30672388 2019
11
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 38
30575988 2019
12
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. 38
30688039 2019
13
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. 38
30527948 2019
14
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate. 38
30611854 2019
15
Thenar Hypertrophy and Electrical Myotonia in Pompe Disease. 38
30801484 2019
16
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. 38
30824560 2019
17
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. 38
30628727 2019
18
Mexiletine Block of Voltage-Gated Sodium Channels: Isoform- and State-Dependent Drug-Pore Interactions. 38
30593458 2019
19
Open-label trial of ranolazine for the treatment of paramyotonia congenita. 38
30390395 2019
20
Advances in imaging of brain abnormalities in neuromuscular disease. 38
31105770 2019
21
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families. 38
30647473 2019
22
Colchicine-induced myoneuropathy with myotonia in a patient with familial Mediterranean fever. 38
30604339 2019
23
Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome. 38
31333559 2019
24
Ganoderma sinense polysaccharide: An adjunctive drug used for cancer treatment. 38
31030747 2019
25
Ganoderma lucidum polysaccharide used for treating physical frailty in China. 38
31030748 2019
26
Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study. 38
30284249 2019
27
Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. 38
30901379 2019
28
Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review. 38
31016049 2019
29
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. 38
29480456 2018
30
Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion. 38
30984523 2018
31
RNA-mediated therapies in myotonic dystrophy. 38
30086404 2018
32
Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. 38
30567354 2018
33
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. 38
30535218 2018
34
Mutant voltage-gated Na+ channels can exert a dominant negative effect through coupled gating. 38
30118344 2018
35
Mutant voltage-gated Na+ channels can exert a dominant negative effect through coupled gating. 38
30351229 2018
36
FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane. 38
30487393 2018
37
A novel heteroplasmic mutation in mitochondrial tRNAArg gene associated with non-dystrophic myotonias. 38
30430429 2018
38
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1. 38
30270126 2018
39
Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology? 38
30663965 2018
40
Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1. 38
30349069 2018
41
Skeletal Muscle Channelopathies. 38
30341599 2018
42
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. 38
30341596 2018
43
Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. 38
30048337 2018
44
Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial. 38
30169600 2018
45
Diphenylethylenediamine-Based Potent Anionophores: Transmembrane Chloride Ion Transport and Apoptosis Inducing Activities. 38
30221925 2018
46
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. 38
29935101 2018
47
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient. 38
30243293 2018
48
[Dystrophic and non-dystrophic myotonias]. 38
30248690 2018
49
Idiopathic hypoparathyroidism with clinical and electrophysiological myotonia- An unusual occurrence. 38
30233028 2018
50
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism. 38
30304928 2018
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Variations for Myotonia

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ClinVar genetic disease variations for Myotonia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLCN1 NM_000083.3(CLCN1): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs1057518917 7:143048726-143048726 7:143351633-143351633
2 CLCN1 NM_000083.3(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 7:143027881-143027881 7:143330788-143330788
3 CLCN1 NM_000083.3(CLCN1): c.1027T> C (p.Phe343Leu) single nucleotide variant Likely pathogenic rs1554436510 7:143028372-143028372 7:143331279-143331279
4 CLCN1 NM_000083.3(CLCN1): c.1662_1663dup (p.His555fs) duplication Likely pathogenic rs1554438441 7:143039101-143039102 7:143342008-143342009
5 CLCN1 NM_000083.3(CLCN1): c.501C> G (p.Phe167Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149729531 7:143018525-143018525 7:143321432-143321432
6 SCN4A NM_000334.4(SCN4A): c.2095G> A (p.Ala699Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518865 17:62034803-62034803 17:63957443-63957443
7 SCN4A NM_000334.4(SCN4A): c.1333G> T (p.Val445Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908552 17:62041947-62041947 17:63964587-63964587
8 RYR1 NM_000540.2(RYR1): c.3202T> C (p.Cys1068Arg) single nucleotide variant Uncertain significance rs1057518768 19:38958273-38958273 19:38467633-38467633
9 OPA1 NM_015560.2(OPA1): c.625-5524G> T single nucleotide variant Uncertain significance rs757018661 3:193343877-193343877 3:193626088-193626088
10 CLCN1 NM_000083.3(CLCN1): c.774G> A (p.Glu258=) single nucleotide variant Uncertain significance 7:143020479-143020479 7:143323386-143323386
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Expression for Myotonia

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Search GEO for disease gene expression data for Myotonia.
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Pathways for Myotonia

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GO Terms for Myotonia

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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 8.96 SCN4A CLCN1
2 muscle contraction GO:0006936 8.62 SCN4A CLCN1
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Sources for Myotonia

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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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