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<span>Isolated hyperCKemia</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/isolated-hyperckemia/</span>
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<h1>Isolated hyperCKemia</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of isolated hyperCKemia is unknown. Because the condition has no symptoms, it is likely that some cases never come to medical attention.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Isolated hyperCKemia is one of a group of conditions called caveolinopathies, which are caused by mutations in the <em><a data-pid="18625" href="https://medlineplus.gov/genetics/gene/cav3/">CAV3</a></em> gene. The <em>CAV3</em> gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure.</p><p><em>CAV3</em> gene mutations result in a shortage of caveolin-3 protein in the muscle cell membrane and a reduction in the number of caveolae. Researchers suggest that a shortage of caveolae impairs the structural integrity of muscle cells, interferes with cell signaling, and causes the self-destruction of cells (<a class="image-modal" data-alt="If a cell is unable to repair errors, it programs itself to die via apoptosis." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004K" data-sourceurl="" data-title="The process of apoptosis" href="https://medlineplus.gov/images/PX00004K_PRESENTATION.jpeg" id="PX00004K_2" title="Show image">apoptosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Creatine kinase is released when muscle cells are broken down. Although no muscle weakness occurs in isolated hyperCKemia, destruction of some muscle cells may lead to the elevated blood levels of creatine kinase that characterize this condition.</p><p>In addition to isolated hyperCKemia, <em>CAV3</em> gene mutations can cause other caveolinopathies including <a data-pid="16317" href="https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/">CAV3-related distal myopathy</a>, <a data-pid="15573" href="https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy/">limb-girdle muscular dystrophy</a>, <a data-pid="16313" href="https://medlineplus.gov/genetics/condition/rippling-muscle-disease/">rippling muscle disease</a>, and a heart disorder called hypertrophic cardiomyopathy. Several <em>CAV3</em> gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single <em>CAV3</em> gene mutation may cause different patterns of signs and symptoms, even within the same family.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Isolated hyperCKemia</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/cav3/">CAV3</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with isolated hyperCKemia or another caveolinopathy. Rare cases result from <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_2" title="Show image">new mutations in the gene<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and occur in people with no history of caveolinopathies in their family.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Elevated serum CPK</li> <li>Elevated serum creatine phosphokinase</li> <li>H-CK</li> <li>Idiopathic hyperCKemia</li> <li>Idiopathic persistent elevation of serum creatine kinase</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C5679790/" target="TheNewWin">Genetic Testing Registry: Caveolinopathy</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/123320" target="TheNewWin">CREATINE PHOSPHOKINASE, ELEVATED SERUM</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28isolated+hyperckemia%5BTIAB%5D%29+OR+%28elevated+serum+cpk%5BTIAB%5D%29+OR+%28idiopathic+hyperckemia%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson
J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--new
mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi:
10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25. <a href="https://pubmed.ncbi.nlm.nih.gov/18583131" target="TheNewWin">Citation on PubMed</a></li>
<li>Alias L, Gallano P, Moreno D, Pujol R, Martinez-Matos JA, Baiget M, Ferrer I,
Olive M. A novel mutation in the caveolin-3 gene causing familial isolated
hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi:
10.1016/j.nmd.2004.01.006. <a href="https://pubmed.ncbi.nlm.nih.gov/15099591" target="TheNewWin">Citation on PubMed</a></li>
<li>Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F,
Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Mutation in the CAV3 gene causes
partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000 Mar
28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. <a href="https://pubmed.ncbi.nlm.nih.gov/10746614" target="TheNewWin">Citation on PubMed</a></li>
<li>Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications
of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol.
2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4. <a href="https://pubmed.ncbi.nlm.nih.gov/21496630" target="TheNewWin">Citation on PubMed</a></li>
<li>Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from
the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010
Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8. Erratum In: Eur J
Hum Genet. 2009 Dec;17(12):1692. <a href="https://pubmed.ncbi.nlm.nih.gov/19584897" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987183/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies:
mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Neurology. 2004 Feb 24;62(4):538-43. doi: 10.1212/wnl.62.4.538. <a href="https://pubmed.ncbi.nlm.nih.gov/14981167" target="TheNewWin">Citation on PubMed</a></li>
</ul>
</div>
</section>
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<li><a href="https://medlineplus.gov/ency/article/003504.htm">CPK isoenzymes test</a></li>
<li><a href="https://medlineplus.gov/ency/article/003503.htm">Creatine phosphokinase test</a></li>
<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
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