Potassium aggravated myotonia

Common Name(s)

Potassium aggravated myotonia

Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement.  The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.   Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium.  Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.   Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.   Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Potassium aggravated myotonia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Potassium aggravated myotonia" returned 1 free, full-text research articles on human participants. First 3 results:

Familial cramp due to potassium-aggravated myotonia.
 

Author(s): R W Orrell, K Jurkat-Rott, F Lehmann-Horn, R J Lane

Journal: J. Neurol. Neurosurg. Psychiatr.. 1998 Oct;65(4):569-72.

 

Clinical, electrophysiological, and molecular genetic features were investigated in two patients from a family a with dominantly inherited myotonic disease, characterised by painful cramps, stiffness without weakness, fluctuation of symptoms, and cold sensitivity. A reduction in amplitude ...

Last Updated: 10 Nov 1998

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Reviews from the PubMed Database

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The terms "Potassium aggravated myotonia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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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: 4 Jun 2014

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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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