Myotonia congenita autosomal dominant

Common Name(s)

Myotonia congenita autosomal dominant

Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement.  The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder:  Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form.  Both conditions are caused by mutations in the CLCN1 gene.  However, the conditions have different modes of inheritance.  The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonia congenita autosomal dominant" for support, advocacy or research.

Periodic Paralysis Association

To provide convenient access to science-based information to help better understand and manage the periodic paralyses. To stimulate interaction between the periodic paralysis community and various professional disciplines that may be able to bring light to this complex and often misunderstood collection of disorders. To provide the tools and a forum for open discussion of the diverse issues associated with these disorders. To promote an increasing level of awareness of these disorders, leading to increased research, improved management guidelines, improved diagnostic protocols, and ultimately, their prevention and cure

Last Updated: 23 Jun 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonia congenita autosomal dominant" for support, advocacy or research.

Periodic Paralysis Association

To provide convenient access to science-based information to help better understand and manage the periodic paralyses. To stimulate interaction between the periodic paralysis community and various professional disciplines that may be able to bring light to this complex and often misunderstood collection of disorders. To provide the tools and a forum for open discussion of the diverse issues associated with these disorders. To promote an increasing level of awareness of these disorders, leading to increased research, improved management guidelines, improved diagnostic protocols, and ultimately, their prevention and cure

http://www.periodicparalysis.org

Last Updated: 23 Jun 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myotonia congenita autosomal dominant" returned 1 free, full-text research articles on human participants. First 3 results:

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
 

Author(s): C Fahlke, C L Beck, A L George

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1997 Mar;94(6):2729-34.

 

Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene (CLCN1, 7q35). Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically ...

Last Updated: 24 Apr 1997

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Myotonia congenita autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Ranolazine in Myotonia Congenita
 

Status: Recruiting

Condition Summary: Myotonia Congenita

 

Last Updated: 26 Sep 2014

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Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM)
 

Status: Recruiting

Condition Summary: Non Dystrophic Myotonia

 

Last Updated: 12 Nov 2014

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