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Potassium-aggravated myotonia

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.

Read more about the SCN4A gene.

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?

These resources address the diagnosis or management of potassium-aggravated myotonia and may include treatment providers.

You might also find information on the diagnosis or management of potassium-aggravated myotonia in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? 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.

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

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 and How are genetic conditions and genes named? in the Handbook.

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

Where can I find general information about genetic conditions?

What glossary definitions help with understanding potassium-aggravated myotonia?

autosomal ; autosomal dominant ; cell ; channel ; gene ; inherited ; ions ; muscle cells ; mutation ; myotonia ; potassium ; protein ; skeletal muscle ; sodium ; sodium channel

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)


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? in the Handbook.

Reviewed: April 2007
Published: February 1, 2016