NDM
MCID: NND001
MIFTS: 18

Nondystrophic Myotonia (NDM)

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 Anti-Arrhythmia Agents have been mentioned in the context of this disorder.

Related Diseases for Nondystrophic Myotonia

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 11.4
2 craniosynostosis 1 11.2
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.2
4 diabetes mellitus, transient neonatal, 1 11.1
5 diabetes mellitus, permanent neonatal 11.1
6 keratoconus posticus circumscriptus 10.8
7 periodic paralyses 10.6
8 myotonia 10.6
9 muscular dystrophy, becker type 10.2
10 muscular dystrophy 10.2
11 familial periodic paralyses 10.2
12 multiple sclerosis 10.1
13 cerebrotendinous xanthomatosis 10.1
14 calciphylaxis 10.1

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 Anti-Arrhythmia Agents Phase 3,Phase 2
3 Sodium Channel Blockers 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:

# 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 )
2015
3
Nondystrophic myotonia: Challenges and future directions. ( 24361411 )
2013
4
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. ( 23032552 )
2012
5
A rare form of painful nondystrophic myotonia. ( 14652094 )
2003
6
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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