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<span>STAC3 disorder</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/stac3-disorder/</span>
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<h1>STAC3 disorder</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth.</p><p>Muscle weakness underlies many of the characteristic features of STAC3 disorder. Affected individuals may have feeding and swallowing difficulties in infancy. They usually have delayed development of motor skills such as sitting, crawling, standing, and walking. Many have facial features described as "myopathic facies", which include drooping eyelids (<a class="image-modal" data-alt="Photograph of the face of a child with ptosis of the right eyelid." data-caption="Ptosis of the right eyelid. Note that the upper lid margin partially covers the right pupil (compare with normal left upper eyelid)." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001O8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001O8" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=1bd157b764ec7aea" data-title="Ptosis" href="https://medlineplus.gov/images/PX0001O8_PRESENTATION.jpeg" id="PX0001O8_1" title="Show image">ptosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), sunken cheeks, and a mouth often held in an open position and with the corners turned downward. Other distinctive facial features in people with STAC3 disorder can include a small lower jaw (<a class="image-modal" data-alt="Photograph of the face of a person with micrognathia." data-caption="There is shortening and narrowing of the mandible and chin." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001LU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001LU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8bbf61b4ad7ca2ef" data-title="Micrognathia" href="https://medlineplus.gov/images/PX0001LU_PRESENTATION.jpeg" id="PX0001LU_2" title="Show image">micrognathia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), an opening in the roof of the mouth (<a class="image-modal" data-alt="Baby with an opening in the roof of the mouth; inset shows greater detail." data-caption="" data-credit="Centers for Disease Control and Prevention" data-filepath="images/PX0000FG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000FG" data-sourceurl="https://www.cdc.gov/birth-defects/about/cleft-lip-cleft-palate.html" data-title="Baby with cleft palate" href="https://medlineplus.gov/images/PX0000FG_PRESENTATION.jpeg" id="PX0000FG_3" title="Show image">cleft palate<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), low-set ears that slant backward, eye openings that are shorter than average or that point downward (short or downslanting palpebral fissures), or an increased distance between the inner corners of the eyes (<a class="image-modal" data-alt="Two photographs of people's faces with their eyes showing telecanthus." data-caption="A: Telecanthus with normal interpupillary distance. B: Telecanthus with Widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001OU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001OU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=55fb0667392bab43" data-title="Telecanthus" href="https://medlineplus.gov/images/PX0001OU_PRESENTATION.jpeg" id="PX0001OU_4" title="Show image">ocular telecanthus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p><p>Individuals with STAC3 disorder may also be born with joint deformities that restrict movement (contractures) or develop an abnormal side-to-side or back-to-front curvature of the spine (<a class="image-modal" data-alt="Diagrams showing sideways curvature of the spine in scoliosis and forward curvature of the upper spine in kyphosis" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX0001AC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001AC" data-sourceurl="" data-title="Abnormal curvature of the spine" href="https://medlineplus.gov/images/PX0001AC_PRESENTATION.jpeg" id="PX0001AC_5" title="Show image">scoliosis or kyphosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, often called kyphoscoliosis when they occur together). Affected individuals tend to be shorter than their peers and others in their family.</p><p>People with STAC3 disorder also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called <a data-pid="14863" href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia/">malignant hyperthermia</a>. Malignant hyperthermia occurs in response to some anesthetic drugs, which are used to block the sensation of pain, either given alone or in combination with a particular type of muscle relaxant. If given these drugs, people at risk of malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever (hyperthermia), increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless the drugs are stopped and the symptoms are treated promptly.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>STAC3 disorder was first found in individuals from the Lumbee Native American Tribe in North Carolina. The condition affects an estimated 1 in 5,000 people in this population. STAC3 disorder has since been found in other populations worldwide, though its prevalence is not known.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>STAC3 disorder is caused by mutations in the <i><a data-pid="20017" href="https://medlineplus.gov/genetics/gene/stac3/">STAC3</a></i> gene. This gene provides instructions for making a protein that plays a role in the tensing (contraction) of skeletal muscles. Muscle contractions are triggered by changes in the concentration of certain charged atoms (ions) in muscle cells. The STAC3 protein aids in the process that triggers the release of calcium ions within muscle cells to start (initiate) muscle contraction.</p><p>The STAC3 protein interacts with two structures in muscle cells that are critical for calcium ion flow, dihydropyridine receptor (DHPR) and ryanodine receptor 1 (RYR1). However, STAC3's role in this formation is unclear. RYR1 forms a channel (the RYR1 channel) through which calcium ions can flow. In response to certain signals, DHPR turns on (activates) the RYR1 channel, and the activated RYR1 channel releases calcium ions stored in structures inside muscle cells. The resulting increase in the calcium ion concentration within muscle cells stimulates muscles to contract, allowing the body to move.</p><p><i>STAC3</i> gene mutations reduce the amount or impair the function of the STAC3 protein. Although the mechanism is unclear, studies show that a shortage of functioning STAC3 protein prevents the release of stored calcium ions by RYR1 channels. A disruption in calcium ion release prevents muscles from contracting normally, leading to the muscle weakness characteristic of STAC3 disorder.</p><p>It is unclear how these <i>STAC3</i> gene mutations lead to malignant hyperthermia in susceptible individuals. Mutations in other genes related to malignant hyperthermia activate the RYR1 channel improperly in response to certain drugs. As a result, large amounts of calcium ions are released from storage within muscle cells, causing skeletal muscles to contract abnormally. An increase in calcium ion concentration also activates processes that generate heat (leading to hyperthermia) and produce excess acid (leading to acidosis). It is unknown if <i>STAC3</i> gene mutations have a similar effect on RYR1 channel activity.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with STAC3 disorder</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/stac3/">STAC3</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="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</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>Myopathy, congenital, Bailey-Bloch</li> <li>Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia</li> <li>NAM</li> <li>Native American myopathy</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/C1850625/" target="TheNewWin">Genetic Testing Registry: Bailey-Bloch congenital myopathy</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>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/8432/index" target="TheNewWin">Native American myopathy</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/255995" target="TheNewWin">CONGENITAL MYOPATHY 13; CMYO13</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%28STAC3+disorder%5BTIAB%5D%29+OR+%28Native+American+myopathy%5BTIAB%5D%29%29+AND+english%5Bla%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>Campiglio M, Flucher BE. STAC3 stably interacts through its C1 domain with
CaV1.1 in skeletal muscle triads. Sci Rep. 2017 Jan 23;7:41003. doi:
10.1038/srep41003. <a href="https://pubmed.ncbi.nlm.nih.gov/28112192" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253670/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle
triads occurs independent of the dihydropyridine receptor. J Cell Physiol. 2018
Dec;233(12):9045-9051. doi: 10.1002/jcp.26767. Epub 2018 Aug 2. <a href="https://pubmed.ncbi.nlm.nih.gov/30071129" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334165/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Grzybowski M, Schanzer A, Pepler A, Heller C, Neubauer BA, Hahn A. Novel STAC3
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