NDM
MCID: NND001
MIFTS: 18

Nondystrophic Myotonia (NDM)

Categories: Rare diseases
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Aliases & Classifications for Nondystrophic Myotonia

MalaCards integrated aliases for Nondystrophic Myotonia:

Name: Nondystrophic Myotonia 19 71
Non Dystrophic Myotonia 71
Ndm 19

Classifications:



External Ids:

UMLS 71 C1828221 C2931139

Summaries for Nondystrophic Myotonia

MalaCards based summary: Nondystrophic Myotonia, also known as non dystrophic myotonia, is related to neonatal diabetes and klebsiella infection. The drugs Mexiletine and Lamotrigine 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 110)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes 11.4
2 klebsiella infection 11.1
3 diabetes mellitus, transient neonatal, 1 10.9
4 diabetes mellitus, permanent neonatal, 1 10.9
5 transient neonatal diabetes mellitus 10.9
6 isolated permanent neonatal diabetes mellitus 10.9
7 48,xxxy syndrome 10.8
8 48,xxyy syndrome 10.8
9 48,xyyy 10.8
10 suppressor of tumorigenicity 11 10.7
11 myotonia 10.6
12 permanent neonatal diabetes mellitus 10.6
13 urinary tract infection 10.5
14 myotonia congenita 10.4
15 ceroid lipofuscinosis, neuronal, 1 10.3
16 neuronal ceroid-lipofuscinoses 10.3
17 bacteremia 2 10.3
18 klebsiella pneumonia 10.3
19 myotonia, potassium-aggravated 10.2
20 myopathy 10.2
21 disease by infectious agent 10.1
22 ataxia with vitamin e deficiency 10.1
23 toxic shock syndrome 10.1
24 gastric antral vascular ectasia 10.1
25 pneumonia 10.1
26 charcot-marie-tooth disease, demyelinating, type 1a 10.1
27 myotonia congenita, autosomal dominant 10.1
28 myotonic dystrophy 1 10.1
29 paramyotonia congenita of von eulenburg 10.1
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
31 roussy-levy hereditary areflexic dystasia 10.1
32 muscle hypertrophy 10.1
33 hereditary sensory neuropathy 10.1
34 charcot-marie-tooth disease 10.1
35 tooth disease 10.1
36 neuromuscular disease 10.1
37 dystonia 10.1
38 hereditary neuropathies 10.1
39 burkitt lymphoma 10.0
40 rocky mountain spotted fever 10.0
41 osteomyelitis 10.0
42 diarrhea 10.0
43 bacteriuria 10.0
44 peritonitis 10.0
45 down syndrome 10.0
46 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.0
47 leukemia, acute lymphoblastic 3 10.0
48 b-lymphoblastic leukemia/lymphoma 10.0
49 pyelonephritis 10.0
50 cholera 10.0

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):

(show all 13)
# 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 Sodium Channel Blockers Phase 3
4 Calcium, Dietary Phase 3
5 Anticonvulsants Phase 3
6 Hormones Phase 3
7 Psychotropic Drugs Phase 3
8 Antipsychotic Agents Phase 3
9 calcium channel blockers Phase 3
10 Anti-Arrhythmia Agents Phase 3
11 Diuretics, Potassium Sparing Phase 3
12
Calcium Nutraceutical Phase 3 7440-70-2 271
13
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
3 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
4 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
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

Organs/tissues related to Nondystrophic Myotonia:

MalaCards : Skeletal Muscle

Publications for Nondystrophic Myotonia

Articles related to Nondystrophic Myotonia:

(show all 27)
# Title Authors PMID Year
1
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. 62
35971866 2022
2
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. 62
35866763 2022
3
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. 62
34996390 2022
4
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study. 62
34702654 2021
5
Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia. 62
34243835 2021
6
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. 62
33246886 2020
7
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation. 62
32129495 2020
8
A zebrafish model of nondystrophic myotonia with sodium channelopathy. 62
31669315 2020
9
Anesthetic management of a patient with sodium-channel myotonia: a case report. 62
32026975 2019
10
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. 62
30535218 2018
11
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. 62
28325641 2017
12
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 62
26510092 2016
13
Muscle channelopathies. 62
25037091 2014
14
Nondystrophic myotonia: challenges and future directions. 62
24361411 2014
15
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. 62
24305449 2013
16
Prevalence study of genetically defined skeletal muscle channelopathies in England. 62
23516313 2013
17
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 62
23152584 2012
18
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. 62
23032552 2012
19
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. 62
21221019 2011
20
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 62
20076800 2009
21
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. 62
19949657 2009
22
Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene. 62
19080124 2008
23
A rare form of painful nondystrophic myotonia. 62
14652094 2003
24
Activation of the MEF2 transcription factor in skeletal muscles from myotonic mice. 62
12021248 2002
25
Phenol derivatives accelerate inactivation kinetics in one inactivation-deficient mutant human skeletal muscle Na(+) channel. 62
11282107 2001
26
[Becker's myotonia in Peru]. 62
10904948 2000
27
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course. 62
7575194 1995

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

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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