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.

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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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.

Last Updated: 12 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paramyotonia congenita" 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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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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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 23 free, full-text research articles on human participants. First 3 results:

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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A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
 

Author(s): Magali Bouhours, Sandrine Luce, Damien Sternberg, Jean Claude Willer, Bertrand Fontaine, Nacira Tabti

Journal: J. Physiol. (Lond.). 2005 Jun;565(Pt 2):415-27.

 

Missense mutations in the human skeletal muscle Na+ channel alpha subunit (hSkM1) are responsible for a number of muscle excitability disorders. Among them, paramyotonia congenita (PC) is characterized by episodes of muscle stiffness induced by cold and aggravated by exercise. We ...

Last Updated: 3 Jun 2005

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
 

Author(s): Magali Bouhours, Damien Sternberg, Claire-Sophie Davoine, Xavier Ferrer, Jean Claude Willer, Bertrand Fontaine, Nacira Tabti

Journal: J. Physiol. (Lond.). 2004 Feb;554(Pt 3):635-47.

 

Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming alpha subunit (hSkM1) of the skeletal muscle Na+ channel. Muscle stiffness is the predominant clinical symptom. It is usually induced ...

Last Updated: 3 Feb 2004

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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

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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