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MCID: MYT011
MIFTS: 35

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 53 29 6 39

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
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Summaries for Myotonia

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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 myotonic dystrophy. 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, heart and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 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 222)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 33.1 SCN4A DMPK CNBP CLCN1
2 myotonic dystrophy 32.7 DMPK CNBP CLCN1
3 hyperkalemic periodic paralysis 32.1 SCN4A DMPK CNBP CLCN1
4 hypokalemic periodic paralysis, type 1 32.0 SCN4A CLCN1
5 myotonic dystrophy 1 31.9 DMPK CNBP CLCN1
6 myotonic dystrophy 2 31.4 SCN4A DMPK CNBP CLCN1
7 neuromuscular disease 29.6 SCN4A DMPK CNBP
8 myotonic disease 29.4 SCN4A DMPK CNBP CLCN1
9 muscular dystrophy 29.2 SCN4A HSPG2 DMPK CLCN1
10 familial periodic paralysis 29.1 SCN4A CNBP CLCN1
11 peripheral nervous system disease 29.1 DMPK CNBP
12 congenital myasthenic syndrome 28.7 SCN4A HSPG2 CLCN1
13 muscular disease 27.9 SCN4A HSPG2 DMPK CNBP CLCN1
14 myotonia, potassium-aggravated 13.0
15 myotonia congenita, autosomal dominant 12.8
16 myotonia congenita, autosomal recessive 12.7
17 nondystrophic myotonia 12.7
18 thomsen's myotonia 12.5
19 becker's myotonia 12.5
20 paramyotonia congenita of von eulenburg 12.4
21 myotonia with skeletal abnormalities and mental retardation 12.3
22 myopathy, granulovacuolar lobular, with electrical myotonia 12.3
23 schwartz-jampel syndrome, type 1 12.2
24 neuromyotonia and axonal neuropathy, autosomal recessive 12.2
25 richieri costa da silva syndrome 11.7
26 myopathy, congenital 11.5
27 cylindrical spirals myopathy 11.1
28 periodic paralysis 10.7
29 myopathy 10.7
30 muscle hypertrophy 10.6
31 periodic paralyses 10.5
32 cataract 10.5
33 muscular atrophy 10.4
34 malignant hyperthermia 10.4
35 myasthenia gravis 10.3
36 hypothyroidism 10.3
37 seizures, benign familial neonatal, 1 10.3
38 myxedema 10.2
39 respiratory failure 10.2
40 blepharospasm 10.2
41 muscular dystrophy, duchenne type 10.1
42 ptosis 10.1
43 endomyocardial fibrosis 10.1
44 centronuclear myopathy 10.1
45 dwarfism 10.1
46 dysphagia 10.1
47 progressive muscular dystrophy 10.1
48 myositis 10.1
49 pyle disease 10.1
50 ataxia and polyneuropathy, adult-onset 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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GenomeRNAi Phenotypes related to Myotonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.1 CNBP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.1 CLCN1 CNBP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.1 CLCN1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.1 CNBP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.1 CNBP

MGI Mouse Phenotypes related to Myotonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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 26)
# 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 Antipsychotic Agents Phase 3
11 Psychotropic Drugs Phase 3
12 Anticonvulsants Phase 3
13 Calcium, Dietary Phase 3
14 calcium channel blockers Phase 3
15 Central Nervous System Depressants Phase 3
16 Hormones Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Adjuvants, Immunologic Phase 2, Phase 3
19 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
20 Immunologic Factors Phase 2, Phase 3
21 Dopamine Uptake Inhibitors Phase 2, Phase 3
22 Neurotransmitter Agents Phase 2, Phase 3
23 Central Nervous System Stimulants Phase 2, Phase 3
24 Dopamine Agents Phase 2, Phase 3
25
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
26
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 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 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
19 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
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:

40
Skeletal Muscle, Heart, Testes, Bone, Thyroid, Brain, Lung
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Publications for Myotonia

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Articles related to Myotonia:

(show top 50) (show all 2222)
# Title Authors PMID Year
1
PURA Syndrome and Myotonia. 61
31911028 2020
2
Long-Term Dislocation of the Mandible: Is there an Algorithm to Success? Intraoperative Decision and Review of Literature. 61
31988556 2020
3
A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients. 61
31655890 2020
4
Substituted cysteine scanning in D1-S6 of the sodium channel hNav1.4 alters kinetics and structural interactions of slow inactivation. 61
31738900 2020
5
Central Role of Subthreshold Currents in Myotonia. 61
31725924 2020
6
CTG expansion in the DMPK gene: semen quality assessment and outcome of Preimplantation Genetic Diagnosis. 61
31996899 2020
7
A zebrafish model of nondystrophic myotonia with sodium channelopathy. 61
31669315 2020
8
The needle EMG findings in myotonia congenita. 61
31610484 2019
9
Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita. 61
31566103 2019
10
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1. 61
31822314 2019
11
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families. 61
30647473 2019
12
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models. 61
31754023 2019
13
Intrinsic Myogenic Potential of Skeletal Muscle-Derived Pericytes from Patients with Myotonic Dystrophy Type 1. 61
31649961 2019
14
Myotonic Muscular Dystrophies. 61
31794466 2019
15
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. 61
31772215 2019
16
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. 61
31732390 2019
17
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. 61
31479430 2019
18
Electrodiagnostic findings in myotonic dystrophy: A study on 12 patients. 61
31871599 2019
19
Diabetes, metformin and cancer risk in myotonic dystrophy type I. 61
31749144 2019
20
Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report. 61
31725606 2019
21
Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature. 61
31744540 2019
22
Anesthetic management of a patient with sodium-channel myotonia: a case report. 61
32026975 2019
23
Brody disease: when myotonia is not myotonia. 61
30996034 2019
24
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. 61
31666547 2019
25
Possible role of SCN4A skeletal muscle mutation in apnea during seizure. 61
31440732 2019
26
Electromyographic Features in a Chinese Cohort With Hereditary Skeletal Muscle Channelopathies. 61
31567646 2019
27
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. 61
31544778 2019
28
[Multiorgan manifestations in myotonic dystrophy type 1]. 61
31495190 2019
29
[Autoimmune polyglandular disorders in myotonic dystrophy]. 61
31566311 2019
30
Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks. 61
31533780 2019
31
Analgesia and Anaesthesia Management of Labour and Caesarean Delivery for a Parturient with Paramyotonia Congenita. 61
31380517 2019
32
Association of Sjögren's syndrome with myotonic dystrophy type 1. 61
31466972 2019
33
Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-Splicing in Myotonic Dystrophy Type 1 Models. 61
31485578 2019
34
Schwartz-Jampel Syndrome Mimicking Myotonia Congenita. 61
31512670 2019
35
MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. 61
30997488 2019
36
A case report of psychiatric symptoms following direct-acting antiviral and ribavirin combination therapy for chronic hepatitis C in a patient with innate anxiety. 61
31195993 2019
37
Myalgia in myositis and myopathies. 61
31590993 2019
38
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. 61
31189464 2019
39
Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. 61
31216016 2019
40
Treatment of myotonia congenita with retigabine in mice. 61
30738808 2019
41
[I1363T mutation induces the defects in fast inactivation of human skeletal muscle voltage-gated sodium channel]. 61
31102352 2019
42
Structure of the human ClC-1 chloride channel. 61
31022181 2019
43
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. 61
30672388 2019
44
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 61
30575988 2019
45
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. 61
30527948 2019
46
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. 61
30688039 2019
47
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate. 61
30611854 2019
48
Thenar Hypertrophy and Electrical Myotonia in Pompe Disease. 61
30801484 2019
49
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. 61
30824560 2019
50
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. 61
30628727 2019
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Variations for Myotonia

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ClinVar genetic disease variations for Myotonia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN1 NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)SNV Pathogenic 17539 rs80356690 7:143027881-143027881 7:143330788-143330788
2 CLCN1 NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)SNV Pathogenic 374131 rs1057518917 7:143048726-143048726 7:143351633-143351633
3 CLCN1 NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)SNV Likely pathogenic 523317 rs1554436510 7:143028372-143028372 7:143331279-143331279
4 CLCN1 NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)duplication Likely pathogenic 523318 rs1554438441 7:143039099-143039100 7:143342006-143342007
5 CLCN1 NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)SNV Conflicting interpretations of pathogenicity 209138 rs149729531 7:143018525-143018525 7:143321432-143321432
6 SCN4A NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)SNV Conflicting interpretations of pathogenicity 374058 rs1057518865 17:62034803-62034803 17:63957443-63957443
7 SCN4A NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)SNV Conflicting interpretations of pathogenicity 373945 rs121908552 17:62041947-62041947 17:63964587-63964587
8 RYR1 NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg)SNV Uncertain significance 373917 rs1057518768 19:38958273-38958273 19:38467633-38467633
9 OPA1 NM_015560.2(OPA1):c.625-5524G>TSNV Uncertain significance 523555 rs757018661 3:193343877-193343877 3:193626088-193626088
10 CLCN1 NM_000083.3(CLCN1):c.774G>A (p.Glu258=)SNV Uncertain significance 636302 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 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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