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<span>Myoclonic epilepsy myopathy sensory ataxia</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-myopathy-sensory-ataxia/</span>
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<h1>Myoclonic epilepsy myopathy sensory ataxia</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the <i><a data-pid="18689" href="https://medlineplus.gov/genetics/gene/polg/">POLG</a></i>-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).</p><p>The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (<a class="image-modal" data-alt="A side view of the brain with various anatomical structures labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX000040_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000040" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Side view of brain" href="https://medlineplus.gov/images/PX000040_PRESENTATION.jpeg" id="PX000040_2" title="Show image">cerebellum<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>MEMSA is caused by mutations in the <i><a data-pid="18689" href="https://medlineplus.gov/genetics/gene/polg/">POLG</a></i> gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol γ). Pol γ functions in <a class="image-modal" data-alt="Mitochondria are structures within the cell cytoplasm." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004O" data-sourceurl="" data-title="Mitochondria" href="https://medlineplus.gov/images/PX00004O_PRESENTATION.jpeg" id="PX00004O_2" title="Show image">mitochondria<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol γ "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called <a class="image-modal" data-alt="During DNA replication, topoisomerase unwinds the DNA helix, and the primase and helicase unzip the paired nucleotides into 2 strands. DNA polymerase helps attach the complementary nucleotide to the each nucleotide of both single strands, forming two double-stranded DNA molecules." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000V8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000V8" data-sourceurl="" data-title="DNA replication" href="https://medlineplus.gov/images/PX0000V8_PRESENTATION.jpeg" id="PX0000V8_3" title="Show image">DNA replication<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p><p>Most <i>POLG</i> gene mutations change single protein building blocks (<a class="image-modal" data-alt="A string of amino acids forming a polypeptide chain." data-caption="Amino acids are a set of 20 different molecules used to build proteins. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000IS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000IS" data-sourceurl="" data-title="Amino acids" href="https://medlineplus.gov/images/PX0000IS_PRESENTATION.jpeg" id="PX0000IS_4" title="Show image">amino acids<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in the alpha subunit of pol γ. These changes result in a mutated pol γ that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the <i>POLG</i> gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of MEMSA.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Myoclonic epilepsy myopathy sensory ataxia</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/polg/">POLG</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>MEMSA</li> <li>SCAE</li> <li>Spinocerebellar ataxia with epilepsy</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/C1843852/" target="TheNewWin">Genetic Testing Registry: Spinocerebellar ataxia with epilepsy</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>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Myoclonic epilepsy myopathy sensory ataxia%22" target="TheNewWin">ClinicalTrials.gov</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>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/607459" target="TheNewWin">SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO</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%28memsa%5BTIAB%5D%29+OR+%28scae%5BTIAB%5D%29%29+OR+%28%28POLG%29+AND+%28mitochondrial+DNA+depletion%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+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>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar
16 [updated 2024 Feb 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace
SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK26471/
<a href="https://pubmed.ncbi.nlm.nih.gov/20301791" target="TheNewWin">Citation on PubMed</a></li>
<li>Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations.
Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. <a href="https://pubmed.ncbi.nlm.nih.gov/20220442" target="TheNewWin">Citation on PubMed</a></li>
<li>Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon
EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic
abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501. <a href="https://pubmed.ncbi.nlm.nih.gov/1998336" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682992/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M,
Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy
metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008
Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16. <a href="https://pubmed.ncbi.nlm.nih.gov/18415670" target="TheNewWin">Citation on PubMed</a></li>
<li>Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights
from DNA polymerase gamma mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi:
10.1007/s00018-010-0530-4. Epub 2010 Oct 8. <a href="https://pubmed.ncbi.nlm.nih.gov/20927567" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046768/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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