Paramyotonia congenita

Common Name(s)

Paramyotonia congenita, Paramyotonia congenita of von eulenburg

Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.  Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paramyotonia congenita" for support, advocacy or research.

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Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

http://hkpp.org

Last Updated: 12 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paramyotonia congenita" for support, advocacy or research.

Logo
Periodic Paralysis International

Our Mission statement is to disseminate timely, medically accurate and useful information, to provide supportive services, and to encourage research which enhances the quality of life for people with the skeletal muscle ion channelopathies classified as the periodic paralyses.

http://hkpp.org

Last Updated: 12 Feb 2013

View Details

 

General Support Organizations

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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 "Paramyotonia congenita" returned 25 free, full-text research articles on human participants. First 3 results:

Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
 

Author(s): Nesrine El-Bizri, Kristopher M Kahlig, John C Shyrock, Alfred L George, Luiz Belardinelli, Sridharan Rajamani

Journal: Channels (Austin). ;5(2):161-72.

 

The antianginal drug ranolazine exerts voltage- and use-dependent block (UDB) of several Na+ channel isoforms, including Na(v) 1.4. We hypothesized that ranolazine will similarly inhibit the paramyotonia congenita Na(v) 1.4 gain-of-function mutations, R1448C, R1448H, and R1448P that ...

Last Updated: 13 Apr 2011

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A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
 

Author(s): S Rajakulendran, S V Tan, E Matthews, S E Tomlinson, R Labrum, R Sud, D M Kullmann, S Schorge, M G Hanna

Journal: Neurology. 2009 Sep;73(12):993-5.

 

Last Updated: 22 Sep 2009

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Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
 

Author(s): James R Groome, Matthew F Larsen, Allyson Coonts

Journal: Channels (Austin). ;2(1):39-50.

 

We investigated effects of paramyotonia congenita mutations F1473S and F1705I on gating of skeletal muscle Na+ channels. We used on-cell recordings from Xenopus oocytes to compare fast inactivation and deactivation in wild-type and mutant channels. Then, we used gating current recordings ...

Last Updated: 11 Aug 2008

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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 "Paramyotonia congenita" returned 1 free, full-text review articles on human participants. First 3 results:

Paramyotonia congenita without cold paralysis: a case report.
 

Author(s): Y Izumi, Y Fukuuchi, A Koto, S Nakajima

Journal: Keio J Med. 1994 Jun;43(2):94-7.

 

A 27-year-old-woman with paramyotonia congenita was reported. She began to suffer from myotonia since infancy. Myotonia was aggravated by cold, but with intense cooling myotonia did not change to flaccid paralysis. Four generations of her family showed the same symptoms that suggested ...

Last Updated: 20 Oct 1994

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lamotrigine as Treatment of Myotonia
 

Status: Recruiting

Condition Summary: Dystrophia Myotonica Type 1; Myotonia Congenita; Paramyotonia Congenita; Hyperkalemic Periodic Paralysis; Potassium-Aggravated Myotonia

 

Last Updated: 11 Nov 2013

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

Status: Not yet recruiting

Condition Summary: Non Dystrophic Myotonia

 

Last Updated: 23 Jan 2014

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