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Genetics Home Reference: your guide to understanding genetic conditions
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Potassium-aggravated myotonia

Reviewed April 2007

What is potassium-aggravated myotonia?

Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness.

How common is potassium-aggravated myotonia?

This condition appears to be rare; it has been reported in only a few individuals and families worldwide.

What genes are related to potassium-aggravated myotonia?

Mutations in the SCN4A gene cause potassium-aggravated myotonia.

The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.

Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. The influx of extra sodium ions triggers prolonged muscle contractions, which are the hallmark of myotonia.

Related Gene(s)

Changes in this gene are associated with potassium-aggravated myotonia.

  • SCN4A

How do people inherit potassium-aggravated myotonia?

Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of potassium-aggravated myotonia?

You might find information on the diagnosis or management of potassium-aggravated myotonia in Educational resources (http://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia/show/Patient+support).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about potassium-aggravated myotonia?

You may find the following resources about potassium-aggravated myotonia helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Drug Information: Acetazolamide (http://www.nlm.nih.gov/medlineplus/druginfo/meds/a682756.html)
    • Health Topic: Muscle Disorders (http://www.nlm.nih.gov/medlineplus/muscledisorders.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=4459)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/myotonia/myotonia.htm)
  • Educational resources - Information pages
    Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=612)

  • Patient support - For patients and families

    • Muscular Dystrophy Association (http://www.mda.org/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/muscular.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22potassium-aggravated%20myotonia%22%20OR%20%22Myotonic%20Disorders%22%20OR%20%22Myotonia%20Fluctuans%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((potassium-aggravated%20myotonia%5BTIAB%5D)%20OR%20(myotonia%20fluctuans%5BTIAB%5D)%20OR%20(myotonia%20permanens%5BTIAB%5D))%20OR%20((acetazolamide%5BTIAB%5D)%20AND%20(myotonia%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/608390)

What other names do people use for potassium-aggravated myotonia?

  • PAM
  • sodium channel myotonia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about potassium-aggravated myotonia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding potassium-aggravated myotonia?

atom ; autosomal ; autosomal dominant ; cell ; channel ; contraction ; gene ; ions ; mutation ; myotonia ; new mutation ; potassium ; protein ; skeletal muscle ; sodium ; sodium channel

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bradley, W G((Walter George)); Neurology in clinical practice; 4th ed.; Philadelphia, PA : Butterworth-Heinemann, c2004. p1854-1855.
  • Colding-Jørgensen E, Duno M, Vissing J. Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006 Jul 11;67(1):153-5. (http://www.ncbi.nlm.nih.gov/pubmed/16832098?dopt=Abstract)
  • Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 1993 Oct;470:13-22. (http://www.ncbi.nlm.nih.gov/pubmed/8308722?dopt=Abstract)
  • Orrell RW, Jurkat-Rott K, Lehmann-Horn F, Lane RJ. Familial cramp due to potassium-aggravated myotonia. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):569-72. (http://www.ncbi.nlm.nih.gov/pubmed/9771789?dopt=Abstract)
  • Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3. (http://www.ncbi.nlm.nih.gov/pubmed/8058156?dopt=Abstract)
  • Vicart S, Sternberg D, Fontaine B, Meola G. Human skeletal muscle sodium channelopathies. Neurol Sci. 2005 Oct;26(4):194-202. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16193245?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2007
Published: May 21, 2012