MCID: NND001
MIFTS: 19

Nondystrophic Myotonia

Categories: Rare diseases

Aliases & Classifications for Nondystrophic Myotonia

MalaCards integrated aliases for Nondystrophic Myotonia:

Name: Nondystrophic Myotonia 53 73
Non-Dystrophic Myotonia 37
Non Dystrophic Myotonia 73
Ndm 53

Classifications:



External Ids:

KEGG 37 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. 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 all 12)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 11.2
2 craniosynostosis 1 11.0
3 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.0
4 diabetes mellitus, transient neonatal, 1 10.9
5 diabetes mellitus, permanent neonatal 10.9
6 myotonia 10.6
7 periodic paralyses 10.5
8 pneumonia 10.2
9 muscular dystrophy 10.1
10 familial periodic paralyses 10.1
11 muscular dystrophy, becker type 10.1
12 calciphylaxis 9.9

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 Diuretics, Potassium Sparing Phase 3,Phase 2
4 Anti-Arrhythmia Agents 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

MalaCards organs/tissues related to Nondystrophic Myotonia:

41
Skeletal Muscle

Publications for Nondystrophic Myotonia

Articles related to Nondystrophic Myotonia:

(show all 15)
# Title Authors Year
1
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. ( 27415035 )
2017
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
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. ( 24305449 )
2013
5
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. ( 23032552 )
2012
6
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. ( 19571750 )
2009
7
The nondystrophic myotonias. ( 17395134 )
2007
8
A rare form of painful nondystrophic myotonia. ( 14652094 )
2003
9
Periodic paralyses and nondystrophic myotonias. ( 11908229 )
2002
10
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. ( 10720928 )
2000
11
The familial periodic paralyses and nondystrophic myotonias. ( 9688022 )
1998
12
Channelopathies: the nondystrophic myotonias and periodic paralyses. ( 8795846 )
1996
13
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course. ( 7575194 )
1995
14
Hereditary nondystrophic myotonias and periodic paralyses. ( 8542048 )
1995
15
Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products. ( 8215981 )
1993

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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