MCID: NND001
MIFTS: 18

Nondystrophic Myotonia

Categories: Rare diseases

Aliases & Classifications for Nondystrophic Myotonia

MalaCards integrated aliases for Nondystrophic Myotonia:

Name: Nondystrophic Myotonia 54 74
Non-Dystrophic Myotonia 38
Non Dystrophic Myotonia 74
Ndm 54

Classifications:



External Ids:

KEGG 38 H01780

Summaries for Nondystrophic Myotonia

MalaCards based summary : Nondystrophic Myotonia, also known as non-dystrophic myotonia, is related to neonatal diabetes mellitus and craniosynostosis 1. 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.

Related Diseases for Nondystrophic Myotonia

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,Phase 2 31828-71-4 4178
2 Sodium Channel Blockers Phase 3,Phase 2
3 Anti-Arrhythmia Agents Phase 3,Phase 2
4 Diuretics, Potassium Sparing Phase 3,Phase 2
5
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
3 Effectiveness of Mexiletine for Treating People With Non-Dystrophic Myotonia Completed NCT00832000 Phase 2 Mexiletine;Placebo
4 Characteristics of Nondystrophic Myotonias Completed NCT00244413
5 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

Search NIH Clinical Center for Nondystrophic Myotonia

Genetic Tests for Nondystrophic Myotonia

Anatomical Context for Nondystrophic Myotonia

Publications for Nondystrophic Myotonia

Articles related to Nondystrophic Myotonia:

(show all 16)
# Title Authors Year
1
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. ( 30535218 )
2018
2
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. ( 26510092 )
2016
3
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis. ( 27300293 )
2016
4
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. ( 27653901 )
2016
5
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia. ( 26885337 )
2015
6
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol. ( 25880166 )
2015
7
Nondystrophic myotonia: challenges and future directions. ( 24361411 )
2014
8
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. ( 23771340 )
2013
9
A quantitative measure of handgrip myotonia in non-dystrophic myotonia. ( 22987687 )
2012
10
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. ( 23032552 )
2012
11
An interactive voice response diary for patients with non-dystrophic myotonia. ( 21674518 )
2011
12
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. ( 18337100 )
2009
13
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. ( 18203179 )
2008
14
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. ( 18337730 )
2008
15
A rare form of painful nondystrophic myotonia. ( 14652094 )
2003
16
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course. ( 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

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
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