MCID: BCK007
MIFTS: 6

Becker's Myotonia

Aliases & Classifications for Becker's Myotonia

MalaCards integrated aliases for Becker's Myotonia:

Name: Becker's Myotonia 54

Summaries for Becker's Myotonia

NINDS : 54 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

MalaCards based summary : Becker's Myotonia An important gene associated with Becker's Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Mexiletine and Lidocaine have been mentioned in the context of this disorder.

Related Diseases for Becker's Myotonia

Symptoms & Phenotypes for Becker's Myotonia

Drugs & Therapeutics for Becker's Myotonia

Drugs for Becker's Myotonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo

Search NIH Clinical Center for Becker's Myotonia

Genetic Tests for Becker's Myotonia

Anatomical Context for Becker's Myotonia

Publications for Becker's Myotonia

Articles related to Becker's Myotonia:

# Title Authors Year
1
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. ( 29480456 )
2018
2
Anaesthesia for orphan disease: Rocuronium and sugammadex in the anaesthetic management of a parturient with Becker's myotonia congenita. ( 26950083 )
2016

Variations for Becker's Myotonia

Expression for Becker's Myotonia

Search GEO for disease gene expression data for Becker's Myotonia.

Pathways for Becker's Myotonia

GO Terms for Becker's Myotonia

Sources for Becker's 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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