NDM
MCID: NND001
MIFTS: 19

Nondystrophic Myotonia (NDM)

Categories: Rare diseases

Aliases & Classifications for Nondystrophic Myotonia

MalaCards integrated aliases for Nondystrophic Myotonia:

Name: Nondystrophic Myotonia 20 70
Non-Dystrophic Myotonia 36
Non Dystrophic Myotonia 70
Ndm 20

Classifications:



External Ids:

KEGG 36 H01780
UMLS 70 C1828221 C2931139

Summaries for Nondystrophic Myotonia

KEGG : 36 Non-dystrophic myotonias are rare diseases caused by mutations in key skeletal muscle ion channels. The major clinical manifestation is muscle stiffness as a consequence of the myotonia. Additional common symptoms include pain, weakness and fatigue. They are considered to be distinct from myotonic dystrophy because of the absence of progressive weakness and systemic features. Non-dystrophic myotonias include myotonia congenita, paramyotonia congenita, and sodium channel myotonias.

MalaCards based summary : Nondystrophic Myotonia, also known as non-dystrophic myotonia, is related to neonatal diabetes and permanent neonatal diabetes mellitus. An important gene associated with Nondystrophic Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Mexiletine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

Related Diseases for Nondystrophic Myotonia

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes 11.4
2 permanent neonatal diabetes mellitus 11.2
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.1
4 transient neonatal diabetes mellitus 11.1
5 diabetes mellitus, transient neonatal, 1 10.9
6 48,xyyy 10.8
7 suppressor of tumorigenicity 11 10.6
8 myotonia 10.5
9 bacterial infectious disease 10.4
10 hyperkalemic periodic paralysis 10.4
11 acute cystitis 10.4
12 myotonia, potassium-aggravated 10.3
13 urinary tract infection 10.3
14 myotonia congenita 10.3
15 paramyotonia congenita of von eulenburg 10.3
16 myotonia congenita, autosomal recessive 10.3
17 periodic paralysis 10.3
18 klebsiella pneumonia 10.3
19 myotonia congenita, autosomal dominant 10.2
20 muscle hypertrophy 10.2
21 endomyocardial fibrosis 10.2
22 neuromuscular disease 10.2
23 pneumonia 10.2
24 disease by infectious agent 10.1
25 toxic shock syndrome 10.1
26 47,xyy 10.1
27 myotonic dystrophy 10.1
28 hypokalemic periodic paralysis, type 1 10.0
29 myotonic dystrophy 2 10.0
30 pre-eclampsia 10.0
31 eclampsia 10.0
32 constipation 10.0
33 muscular atrophy 10.0
34 b-lymphoblastic leukemia/lymphoma 10.0
35 pyelonephritis 10.0
36 bacteriuria 10.0
37 peritonitis 10.0
38 type 2 diabetes mellitus 9.8
39 triiodothyronine receptor auxiliary protein 9.8
40 australia antigen 9.8
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
42 bainbridge-ropers syndrome 9.8
43 arthrogryposis, mental retardation, and seizures 9.8
44 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.8
45 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
46 aspiration pneumonia 9.8
47 ischemic colitis 9.8
48 covid-19 9.8
49 complete androgen insensitivity syndrome 9.8
50 endometritis 9.8

Graphical network of the top 20 diseases related to Nondystrophic Myotonia:



Diseases related to Nondystrophic Myotonia

Symptoms & Phenotypes for Nondystrophic Myotonia

Drugs & Therapeutics for Nondystrophic Myotonia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3 31828-71-4 4178
2 Sodium Channel Blockers Phase 3
3 Diuretics, Potassium Sparing Phase 3
4 Anti-Arrhythmia Agents Phase 3
5
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 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
3 Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
4 Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study Completed NCT00244413
5 Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia Recruiting NCT04799366

Search NIH Clinical Center for Nondystrophic Myotonia

Genetic Tests for Nondystrophic Myotonia

Anatomical Context for Nondystrophic Myotonia

MalaCards organs/tissues related to Nondystrophic Myotonia:

40
Skeletal Muscle

Publications for Nondystrophic Myotonia

Articles related to Nondystrophic Myotonia:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. 61
33246886 2020
2
The roles of mitochondrial tRNA mutations in non-dystrophic myotonias. 61
33367105 2020
3
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. 61
32593548 2020
4
Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies. 61
32622512 2020
5
Mutation spectrum and health status in skeletal muscle channelopathies in Japan. 61
32660787 2020
6
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation. 61
32129495 2020
7
A novel heteroplasmic mutation in mitochondrial tRNAArg gene associated with non-dystrophic myotonias. 61
30430429 2020
8
A zebrafish model of nondystrophic myotonia with sodium channelopathy. 61
31669315 2020
9
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review. 61
32083589 2020
10
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families. 61
30647473 2019
11
Anesthetic management of a patient with sodium-channel myotonia: a case report. 61
32026975 2019
12
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. 61
31189464 2019
13
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. 61
30535218 2018
14
Skeletal Muscle Channelopathies. 61
30341599 2018
15
Multiple sclerosis and non-dystrophic myotonias: do they share a common pathophysiology? 61
30663965 2018
16
A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? 61
29851785 2018
17
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 61
29606556 2018
18
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses. 61
29391559 2018
19
What the internist should know about hereditary muscle channelopathies. 61
29088983 2018
20
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature. 61
29899727 2018
21
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study. 61
29050397 2017
22
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. 61
28325641 2017
23
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant. 61
28012096 2017
24
A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia. 61
31156883 2016
25
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 61
27653901 2016
26
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. 61
26036855 2016
27
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis. 61
27300293 2016
28
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 61
26510092 2016
29
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia. 61
26885337 2015
30
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol. 61
25880166 2015
31
Myotonic discharges discriminate chloride from sodium muscle channelopathies. 61
25454733 2015
32
Myotonia congenita: novel mutations in CLCN1 gene. 61
26260254 2015
33
Treatment and management of neuromuscular channelopathies. 61
25118992 2014
34
Muscle channelopathies. 61
25037091 2014
35
Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs. 61
24613829 2014
36
Nondystrophic myotonia: challenges and future directions. 61
24361411 2014
37
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. 61
24305449 2013
38
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 61
23810313 2013
39
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. 61
23771340 2013
40
Prevalence study of genetically defined skeletal muscle channelopathies in England. 61
23516313 2013
41
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 61
23152584 2012
42
Measuring quality of life impairment in skeletal muscle channelopathies. 61
22607270 2012
43
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. 61
23032552 2012
44
A quantitative measure of handgrip myotonia in non-dystrophic myotonia. 61
22987687 2012
45
A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis. 61
22617007 2012
46
An interactive voice response diary for patients with non-dystrophic myotonia. 61
21674518 2011
47
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. 61
21221019 2011
48
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 61
19949657 2009
49
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 61
20076800 2009
50
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 61
18337100 2009

Variations for Nondystrophic Myotonia

Expression for Nondystrophic Myotonia

Search GEO for disease gene expression data for Nondystrophic Myotonia.

Pathways for Nondystrophic Myotonia

GO Terms for Nondystrophic Myotonia

Sources for Nondystrophic 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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