MCID: BCK007
MIFTS: 8

Becker's Myotonia

Aliases & Classifications for Becker's Myotonia

MalaCards integrated aliases for Becker's Myotonia:

Name: Becker's Myotonia 55

Summaries for Becker's Myotonia

NINDS : 55 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 is related to myotonia and myotonia congenita. An important gene associated with Becker's Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1). The drugs Lidocaine and Mexiletine have been mentioned in the context of this disorder.

Related Diseases for Becker's Myotonia

Diseases related to Becker's Myotonia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myotonia 10.3
2 myotonia congenita 10.1

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