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MCID: MYT011
MIFTS: 34

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 55 30 6 41

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
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Summaries for Myotonia

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NINDS : 55 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, heart and thyroid, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 77 Myotonia (Myo from Greek; muscle, and Tonus from Latin; tension) is a symptom of a small handful of... 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 117)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 33.7 CLCN1 CNBP SCN4A
2 hyperkalemic periodic paralysis 33.1 CLCN1 SCN4A
3 myotonic dystrophy 32.6 CLCN1 CNBP DMPK
4 myotonic dystrophy 1 31.9 CLCN1 CNBP DMPK
5 hypokalemic periodic paralysis, type 1 31.8 CLCN1 SCN4A
6 myotonic dystrophy 2 31.5 CLCN1 CNBP DMPK SCN4A
7 familial periodic paralysis 29.6 CLCN1 SCN4A
8 neuromuscular disease 29.4 DMPK SCN4A
9 myotonic disease 28.7 CLCN1 CNBP DMPK SCN4A
10 muscular disease 28.0 CLCN1 CNBP DMPK HSPG2 SCN4A
11 myotonia, potassium-aggravated 12.9
12 myotonia congenita, autosomal dominant 12.6
13 myotonia congenita, autosomal recessive 12.6
14 becker's myotonia 12.4
15 thomsen's myotonia 12.4
16 nondystrophic myotonia 12.3
17 myotonia atrophica 12.2
18 paramyotonia congenita of von eulenburg 12.2
19 schwartz-jampel syndrome, type 1 12.1
20 myotonia with skeletal abnormalities and mental retardation 12.1
21 myopathy, granulovacuolar lobular, with electrical myotonia 12.0
22 neuromyotonia and axonal neuropathy, autosomal recessive 11.9
23 richieri costa da silva syndrome 11.6
24 cylindrical spirals myopathy 11.0
25 myopathy, congenital 11.0
26 myopathy 10.5
27 muscular dystrophy 10.4
28 periodic paralyses 10.3
29 cataract 10.3
30 muscle hypertrophy 10.2
31 malignant hyperthermia 10.2
32 seizures, benign familial neonatal, 1 10.2
33 polyglucosan body myopathy 1 with or without immunodeficiency 10.2
34 myasthenia gravis 10.1
35 hypothyroidism 10.1
36 centronuclear myopathy 10.1
37 myasthenia gravis congenital 10.1
38 diabetes mellitus, noninsulin-dependent 10.0
39 multiple sclerosis 10.0
40 myxedema 10.0
41 muscle disorders 10.0
42 bone disease 10.0
43 muscular atrophy 10.0
44 dwarfism 10.0
45 myositis 10.0
46 pyle disease 10.0
47 muscular dystrophy, becker type 10.0
48 muscular dystrophy, duchenne type 10.0
49 brody myopathy 10.0
50 orthostatic intolerance 10.0

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 CNBP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.17 CLCN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.17 CLCN1 CNBP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.17 CLCN1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.17 CNBP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.17 CNBP

MGI Mouse Phenotypes related to Myotonia:

47
# 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 20)
# 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,Phase 2 31828-71-4 4178
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
5 Antipsychotic Agents Phase 3
6 Central Nervous System Depressants Phase 3
7 Calcium, Dietary Phase 3
8 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
9 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
10 Psychotropic Drugs Phase 3
11 Hormones Phase 3
12 Tranquilizing Agents Phase 3
13 calcium channel blockers Phase 3
14 Anticonvulsants Phase 3
15 Anti-Arrhythmia Agents Phase 3,Phase 2
16 Immunologic Factors Phase 2, Phase 3
17 Adjuvants, Immunologic Phase 2, Phase 3
18 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
19
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
20
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
2 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
3 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
4 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
5 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
6 Effectiveness of Mexiletine for Treating People With Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
7 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
8 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
9 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
10 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
11 Characteristics of Nondystrophic Myotonias Completed NCT00244413
12 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
13 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
14 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
15 Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) Recruiting NCT03867435
16 Clinical Outcome Measures in Myotonic Dystrophy Type 2 Recruiting NCT03603171
17 Myotonic Dystrophy Family Registry Recruiting NCT02398786
18 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504
19 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

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 30
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Anatomical Context for Myotonia

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MalaCards organs/tissues related to Myotonia:

42
Skeletal Muscle, Heart, Thyroid, Bone, Testes, Colon, Smooth Muscle
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Publications for Myotonia

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Articles related to Myotonia:

(show top 50) (show all 877)
# Title Authors Year
1
Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene. ( 30527948 )
2019
2
Colchicine-induced myoneuropathy with myotonia in a patient with familial Mediterranean fever. ( 30604339 )
2019
3
Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study. ( 30284249 )
2019
4
Treatment of myotonia congenita with retigabine in mice. ( 30738808 )
2019
5
Thenar Hypertrophy and Electrical Myotonia in Pompe Disease. ( 30801484 )
2019
6
Brody disease: when myotonia is not myotonia. ( 30996034 )
2019
7
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. ( 29480456 )
2018
8
Idiopathic hypoparathyroidism with clinical and electrophysiological myotonia- An unusual occurrence. ( 30233028 )
2018
9
Dynamin-2-associated myopathy with electrical but not clinical myotonia. ( 29105112 )
2018
10
Quantitative sonographic assessment of myotonia. ( 28561926 )
2018
11
Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia. ( 29381887 )
2018
12
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. ( 29424939 )
2018
13
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. ( 29451154 )
2018
14
Novel Lys215Asn mutation in an Italian family with Thomsen myotonia. ( 29546603 )
2018
15
A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels. ( 29674667 )
2018
16
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). ( 29695755 )
2018
17
A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? ( 29851785 )
2018
18
Myotonia congenita in a Labrador Retriever with truncated CLCN1. ( 29934119 )
2018
19
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. ( 29935101 )
2018
20
Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. ( 29946067 )
2018
21
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. ( 30243293 )
2018
22
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. ( 30535218 )
2018
23
Quantitative myotonia assessment using a commercially-available dynamometer in myotonic dystrophy types 1 and 2. ( 30575988 )
2018
24
[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita]. ( 29896741 )
2018
25
Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia. ( 29160548 )
2017
26
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. ( 28012096 )
2017
27
Myotonia in a Child with Muscle Hypertrophy. ( 28141569 )
2017
28
Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia. ( 28557061 )
2017
29
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype. ( 28024841 )
2017
30
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia. ( 27639085 )
2017
31
The anti-convulsants lacosamide, lamotrigine, and rufinamide reduce myotonia in isolated human and rat skeletal muscle. ( 27783415 )
2017
32
Aerobic training in myotonia congenita: Effect on myotonia and fitness. ( 28039888 )
2017
33
Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita. ( 28153715 )
2017
34
Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome. ( 28187499 )
2017
35
Advances in assessing myotonia: Can sensor-engineered glove have a role? ( 28320154 )
2017
36
Targeted Next Generation Sequencing in patients with Myotonia Congenita. ( 28427807 )
2017
37
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. ( 28706458 )
2017
38
Open-label trial of ranolazine for the treatment of myotonia congenita. ( 28710329 )
2017
39
Inhibiting persistent inward sodium currents prevents myotonia. ( 28833464 )
2017
40
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia. ( 28993909 )
2017
41
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. ( 29296622 )
2017
42
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). ( 29405036 )
2017
43
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. ( 29774303 )
2017
44
An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease. ( 28552867 )
2017
45
Anaesthesia and orphan disease: rocuronium and sugammadex in the anaesthetic management of a parturient with Becker's myotonia congenita. ( 26950083 )
2016
46
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. ( 26510092 )
2016
47
Thomsen myotonia--A 4-generation family with a new mutation and a mild phenotype. ( 26566215 )
2016
48
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review. ( 26944947 )
2016
49
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China. ( 27118449 )
2016
50
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation. ( 27164696 )
2016
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Variations for Myotonia

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ClinVar genetic disease variations for Myotonia:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN1 NM_000083.2(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 GRCh37 Chromosome 7, 143027881: 143027881
2 CLCN1 NM_000083.2(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 GRCh38 Chromosome 7, 143330788: 143330788
3 CLCN1 NM_000083.2(CLCN1): c.501C> G (p.Phe167Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149729531 GRCh37 Chromosome 7, 143018525: 143018525
4 CLCN1 NM_000083.2(CLCN1): c.501C> G (p.Phe167Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149729531 GRCh38 Chromosome 7, 143321432: 143321432
5 CLCN1 NM_000083.2(CLCN1): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs1057518917 GRCh38 Chromosome 7, 143351633: 143351633
6 CLCN1 NM_000083.2(CLCN1): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs1057518917 GRCh37 Chromosome 7, 143048726: 143048726
7 SCN4A NM_000334.4(SCN4A): c.2095G> A (p.Ala699Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518865 GRCh37 Chromosome 17, 62034803: 62034803
8 SCN4A NM_000334.4(SCN4A): c.2095G> A (p.Ala699Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518865 GRCh38 Chromosome 17, 63957443: 63957443
9 SCN4A NM_000334.4(SCN4A): c.1333G> T (p.Val445Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908552 GRCh37 Chromosome 17, 62041947: 62041947
10 SCN4A NM_000334.4(SCN4A): c.1333G> T (p.Val445Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908552 GRCh38 Chromosome 17, 63964587: 63964587
11 RYR1 NM_000540.2(RYR1): c.3202T> C (p.Cys1068Arg) single nucleotide variant Uncertain significance rs1057518768 GRCh37 Chromosome 19, 38958273: 38958273
12 RYR1 NM_000540.2(RYR1): c.3202T> C (p.Cys1068Arg) single nucleotide variant Uncertain significance rs1057518768 GRCh38 Chromosome 19, 38467633: 38467633
13 OPA1 NM_130837.2(OPA1): c.679-4G> T single nucleotide variant Uncertain significance rs757018661 GRCh37 Chromosome 3, 193343877: 193343877
14 OPA1 NM_130837.2(OPA1): c.679-4G> T single nucleotide variant Uncertain significance rs757018661 GRCh38 Chromosome 3, 193626088: 193626088
15 CLCN1 NM_000083.2(CLCN1): c.1027T> C (p.Phe343Leu) single nucleotide variant Likely pathogenic rs1554436510 GRCh37 Chromosome 7, 143028372: 143028372
16 CLCN1 NM_000083.2(CLCN1): c.1027T> C (p.Phe343Leu) single nucleotide variant Likely pathogenic rs1554436510 GRCh38 Chromosome 7, 143331279: 143331279
17 CLCN1 NM_000083.2(CLCN1): c.1662_1663dup (p.His555Leufs) duplication Likely pathogenic rs1554438441 GRCh38 Chromosome 7, 143342008: 143342009
18 CLCN1 NM_000083.2(CLCN1): c.1662_1663dup (p.His555Leufs) duplication Likely pathogenic rs1554438441 GRCh37 Chromosome 7, 143039101: 143039102
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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 CLCN1 SCN4A
2 muscle contraction GO:0006936 8.62 CLCN1 SCN4A
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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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