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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>SGCE Myoclonus-Dystonia - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
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<meta name="citation_title" content="SGCE Myoclonus-Dystonia">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2020/06/04">
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<meta name="citation_author" content="Deborah Raymond">
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<meta name="citation_author" content="Rachel Saunders-Pullman">
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<meta name="citation_author" content="Laurie Ozelius">
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<meta name="citation_keywords" content="Dystonia 11 (DYT11)">
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<meta name="citation_keywords" content="DYT-SGCE">
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<meta name="citation_keywords" content="Dystonia 11 (DYT11)">
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<meta name="citation_keywords" content="DYT-SGCE">
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<meta name="citation_keywords" content="Epsilon-sarcoglycan">
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<meta name="citation_keywords" content="SGCE">
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<meta name="citation_keywords" content="SGCE Myoclonus-Dystonia">
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<meta name="DC.Title" content="SGCE Myoclonus-Dystonia">
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<meta name="DC.Publisher" content="University of Washington, Seattle">
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<meta name="DC.Contributor" content="Deborah Raymond">
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<meta name="DC.Contributor" content="Rachel Saunders-Pullman">
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<meta name="DC.Contributor" content="Laurie Ozelius">
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<meta name="DC.Date" content="2020/06/04">
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<meta name="description" content="SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of SGCE-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. SGCE-M-D is compatible with an active life of normal span.">
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<meta name="og:title" content="SGCE Myoclonus-Dystonia">
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<meta name="og:description" content="SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of SGCE-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. SGCE-M-D is compatible with an active life of normal span.">
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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK1414_"><span class="title" itemprop="name"><i>SGCE</i> Myoclonus-Dystonia</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonyms: Dystonia 11 (DYT11), DYT-SGCE</div><p class="contribs">Raymond D, Saunders-Pullman R, Ozelius L.</p><p class="fm-aai"><a href="#_NBK1414_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 26 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="myo-dystonia.Summary" itemprop="description"><h2 id="_myo-dystonia_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p><i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of <i>SGCE</i>-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. <i>SGCE</i>-M-D is compatible with an active life of normal span.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <i>SGCE</i>-M-D is established in a proband with characteristic clinical features by identification of a heterozygous pathogenic variant in <i>SGCE</i>.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations</i>: Class 1 evidence supports the improvement of myoclonus and dystonia with zonisamide. Benzodiazepines (particularly clonazepam) and anti-seizure drugs used to treat myoclonus (especially valproate and levitiracetam) also improve myoclonus in individuals with myoclonus-dystonia. The response to other anti-seizure drugs (e.g., topiramate) is more variable. Anticholinergic medication may improve dystonia. Botulinum toxin injection may be especially helpful for cervical dystonia. Improvement with L-5-hydroxytryptophan, L-dopa, and the salt of sodium oxybate has been reported. Deep brain stimulation has improved both myoclonus and dystonia, with most targeting the globus pallidus interna (GPi); however, success with ventral intermediate nucleus of the thalamus (VIM) target has also been reported.</p><p><i>Other</i>: Symptoms of <i>SGCE</i>-M-D often improve short term with ingestion of alcohol, but the risk of addiction recommends against its long-term use.</p></div><div><h4 class="inline">Genetic counseling.</h4><p><i>SGCE</i>-M-D is inherited in an autosomal dominant manner with penetrance determined by the parental origin of the altered <i>SGCE</i> allele: an <i>SGCE</i> pathogenic variant on the paternally derived (expressed) <i>SGCE</i> allele generally results in disease; a pathogenic variant on the maternally derived (silenced) <i>SGCE</i> allele typically does not result in disease. Most individuals with <i>SGCE</i>-M-D inherited the disorder from a heterozygous parent who may or may not have clinical signs of M-D (as phenotypic expression in the parent would depend on the sex of the transmitting grandparent). Each child of an individual with <i>SGCE</i>-M-D has a 50% chance of inheriting the pathogenic variant. Almost all children who inherit an <i>SGCE</i> pathogenic variant from their father develop symptoms, whereas only ~5% of children who inherit an <i>SGCE</i> pathogenic variant from their mother develop symptoms. Once the <i>SGCE</i> pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic diagnosis are possible.</p></div></div><div id="myo-dystonia.Diagnosis"><h2 id="_myo-dystonia_Diagnosis_">Diagnosis</h2><div id="myo-dystonia.Suggestive_Findings"><h3>Suggestive Findings</h3><p><i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D) <b>should be suspected</b> in individuals with myoclonus alone or with dystonia that begins in the first or second decade of life. It less frequently presents with isolated dystonia. Recently suggested criteria for the diagnosis of M-D require four major criteria and no exclusionary criteria OR three major criteria, two minor criteria, and no exclusionary criteria [<a class="bibr" href="#myo-dystonia.REF.roze.2018.484" rid="myo-dystonia.REF.roze.2018.484">Roze et al 2018</a>].</p><p>
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<b>Major criteria</b>
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</p><ul><li class="half_rhythm"><div>Myoclonus isolated or predominating over dystonia</div></li><li class="half_rhythm"><div>Prominence of the motor manifestations in the upper body</div></li><li class="half_rhythm"><div>Absence of truncal dystonia</div></li><li class="half_rhythm"><div>Positive family history</div></li><li class="half_rhythm"><div>Onset before age 18 years</div></li></ul><p>
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<b>Minor criteria</b>
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</p><ul><li class="half_rhythm"><div>Obsessive-compulsive disorder, anxiety-related disorder, or alcohol dependence</div></li><li class="half_rhythm"><div>Spontaneous remission of limb dystonia during childhood or adolescence</div></li><li class="half_rhythm"><div>Alcohol responsiveness</div></li></ul><p>
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<b>Exclusionary criteria</b>
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</p><ul><li class="half_rhythm"><div>Other neurologic manifestation in addition to myoclonus and/or dystonia (except seizures, which may be present in some individuals with <i>SGCE</i>-M-D)</div></li><li class="half_rhythm"><div>Abnormal brain MRI examination</div></li><li class="half_rhythm"><div>Neurophysiologic findings that do not support the diagnosis (defined as muscle contractions shorter than 300 ms that can occur in body parts not affected by dystonia)</div></li></ul></div><div id="myo-dystonia.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <i>SGCE</i>-M-D <b>is established</b> in a proband with myoclonus and/or dystonia by identification of a heterozygous pathogenic variant in <i>SGCE</i> on molecular genetic testing (see <a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobmyodystoniaTmoleculargenetictesting">Table 1</a>).</p><p>Note: (1) <i>SGCE</i> is maternally imprinted and, therefore, expressed only from the paternal allele. While rare cases of maternal inheritance have been reported (see <a href="#myo-dystonia.Penetrance">Penetrance</a> and <a href="#myo-dystonia.Molecular_Genetics">Molecular Genetics</a>), affected individuals typically have a pathogenic variant on the paternal allele. (2) A small number of individuals have been identified with either microdeletions of <i>SGCE</i> or maternal uniparental disomy resulting in methylation of both <i>SGCE</i> alleles (see <a href="#myo-dystonia.Genetically_Related_Allelic">Genetically Related Disorders</a>).</p><p>Molecular genetic testing approaches can include <b>single-gene testing</b> and a <b>multigene panel</b>. However, for this disorder, a multigene panel that also includes deletion/duplication analysis is recommended (see <a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobmyodystoniaTmoleculargenetictesting">Table 1</a>):</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Single-gene testing.</b> Sequence analysis of <i>SGCE</i> detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications. Single-gene testing is most appropriate in individuals from families with a previously identified <i>SGCE</i> pathogenic variant.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A dystonia multigene panel</b> that includes <i>SGCE</i> and other genes of interest (see <a href="#myo-dystonia.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder, a multigene panel that also includes deletion/duplication analysis is recommended (see <a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobmyodystoniaTmoleculargenetictesting">Table 1</a>).</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmyodystoniaTmoleculargenetictesting"><a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobmyodystoniaTmoleculargenetictesting"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="myo-dystonia.T.molecular_genetic_testing"><a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figobmyodystoniaTmoleculargenetictesting">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in <i>SGCE</i> Myoclonus-Dystonia </p></div></div></div></div><div id="myo-dystonia.Clinical_Characteristics"><h2 id="_myo-dystonia_Clinical_Characteristics_">Clinical Characteristics</h2><div id="myo-dystonia.Clinical_Description"><h3>Clinical Description</h3><p><i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus), and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). Onset is most often in the first decade of life or in adolescence.</p><p>While most affected adults report a dramatic response of myoclonus to ingestion of alcohol [<a class="bibr" href="#myo-dystonia.REF.quinn.1996.119" rid="myo-dystonia.REF.quinn.1996.119">Quinn 1996</a>], the alleviation of findings following alcohol ingestion varies within and between families. Alcohol dependence may be a comorbidity in those who do respond.</p><p>The myoclonic jerks typical of <i>SGCE</i>-M-D are brief, lightning-like movements most often affecting the neck, trunk, and upper limbs, with legs less prominently affected. In children, leg and trunk myoclonus may in rare cases lead to falls [<a class="bibr" href="#myo-dystonia.REF.luciano.2009.425" rid="myo-dystonia.REF.luciano.2009.425">Luciano et al 2009</a>]. Myoclonus is usually the presenting manifestation of <i>SGCE</i>-M-D.</p><p>Approximately half of affected individuals (54%) have focal or segmental dystonia that manifests as cervical dystonia and/or writer's cramp [<a class="bibr" href="#myo-dystonia.REF.asmus.2002.489" rid="myo-dystonia.REF.asmus.2002.489">Asmus et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.klein.2002.675" rid="myo-dystonia.REF.klein.2002.675">Klein et al 2002</a>]. In contrast to primary torsion dystonia [<a class="bibr" href="#myo-dystonia.REF.bressman.2000.1746" rid="myo-dystonia.REF.bressman.2000.1746">Bressman et al 2000</a>], dystonia in the lower limbs is rare, although it has been reported in individuals with infantile onset [<a class="bibr" href="#myo-dystonia.REF.kyllerman.1990.270" rid="myo-dystonia.REF.kyllerman.1990.270">Kyllerman et al 1990</a>]. In addition, the dystonia does not tend to worsen or generalize in the course of the disease. Infrequently, dystonia is the only disease manifestation.</p><p>The involuntary movements are frequently precipitated or worsened by active movements of the affected body parts. Other factors eliciting or enhancing the movements include stress [<a class="bibr" href="#myo-dystonia.REF.kyllerman.1990.270" rid="myo-dystonia.REF.kyllerman.1990.270">Kyllerman et al 1990</a>], sudden noise [<a class="bibr" href="#myo-dystonia.REF.asmus.2001.121" rid="myo-dystonia.REF.asmus.2001.121">Asmus et al 2001</a>, <a class="bibr" href="#myo-dystonia.REF.trottenberg.2001.769" rid="myo-dystonia.REF.trottenberg.2001.769">Trottenberg et al 2001</a>], caffeine [<a class="bibr" href="#myo-dystonia.REF.nygaard.1999.794" rid="myo-dystonia.REF.nygaard.1999.794">Nygaard et al 1999</a>], and tactile stimuli [<a class="bibr" href="#myo-dystonia.REF.nygaard.1999.794" rid="myo-dystonia.REF.nygaard.1999.794">Nygaard et al 1999</a>].</p><p>Tremor (postural or other) may be a feature in a subset of individuals [<a class="bibr" href="#myo-dystonia.REF.vidailhet.2001.1213" rid="myo-dystonia.REF.vidailhet.2001.1213">Vidailhet et al 2001</a>].</p><p>Psychiatric comorbidities have been reported. One systematic analysis of 307 participants with pathogenic variants in <i>SGCE</i> and M-D found that 65% had one or more psychiatric diagnoses, the most common of which were specific (33%) and social phobias (31%), followed by alcohol dependence (24%) and obsessive-compulsive disorder (OCD) (21%) [<a class="bibr" href="#myo-dystonia.REF.peall.2015.4" rid="myo-dystonia.REF.peall.2015.4">Peall et al 2015</a>]. A further comparison of symptomatic and asymptomatic individuals with an <i>SGCE</i> pathogenic variant reported in this study found that OCD and social phobia were ten and 12 times more likely, respectively, in symptomatic individuals. It is unclear if psychiatric features seen in people with <i>SGCE</i>-M-D are a result of the <i>SGCE</i> pathogenic variant or a consequence of living with the disease. One argument against a purely reactive explanation, however, is that OCD is generally not considered a reactive condition.</p><p>Other neurologic signs and symptoms including dementia and ataxia are rare in <i>SGCE</i>-M-D [<a class="bibr" href="#myo-dystonia.REF.gasser.1998.325" rid="myo-dystonia.REF.gasser.1998.325">Gasser 1998</a>]. Seizures are also rare, but have been reported in at least three families and are no longer considered exclusionary for diagnosis. However, the significance of this finding remains unclear [<a class="bibr" href="#myo-dystonia.REF.foncke.2003.1988" rid="myo-dystonia.REF.foncke.2003.1988">Foncke et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.oriordan.2004.1456" rid="myo-dystonia.REF.oriordan.2004.1456">O'Riordan et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.haugarvoll.2014.358" rid="myo-dystonia.REF.haugarvoll.2014.358">Haugarvoll et al 2014</a>].</p><p><i>SGCE</i>-M-D is compatible with an active life of normal span [<a class="bibr" href="#myo-dystonia.REF.nygaard.1999.794" rid="myo-dystonia.REF.nygaard.1999.794">Nygaard et al 1999</a>].</p><p>Although spontaneous remission of <i>SGCE</i>-M-D has been reported [<a class="bibr" href="#myo-dystonia.REF.roze.2008.1010" rid="myo-dystonia.REF.roze.2008.1010">Roze et al 2008</a>], <i>SGCE</i>-M-D may also be gradually progressive [<a class="bibr" href="#myo-dystonia.REF.trottenberg.2001.769" rid="myo-dystonia.REF.trottenberg.2001.769">Trottenberg et al 2001</a>], leading to considerable functional disability and sometimes to early retirement [<a class="bibr" href="#myo-dystonia.REF.hjermind.2003.1536" rid="myo-dystonia.REF.hjermind.2003.1536">Hjermind et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.mar_chal.2003.114" rid="myo-dystonia.REF.mar_chal.2003.114">Maréchal et al 2003</a>].</p><p>Multiple studies support a different disease mechanism for <i>SGCE</i>-M-D than for isolated dystonia. Currently, the leading hypotheses suggest dysfunction of the cerebello-thalamo-cortical or striato-pallido-thalmo-cortical pathways [<a class="bibr" href="#myo-dystonia.REF.popa.2014.612" rid="myo-dystonia.REF.popa.2014.612">Popa et al 2014</a>, <a class="bibr" href="#myo-dystonia.REF.roze.2015.871" rid="myo-dystonia.REF.roze.2015.871">Roze et al 2015</a>].</p></div><div id="myo-dystonia.GenotypePhenotype_Correlati"><h3>Genotype-Phenotype Correlations</h3><p>No genotype-phenotype correlations have been identified.</p></div><div id="myo-dystonia.Penetrance"><h3>Penetrance</h3><p>Reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of <i>SGCE</i> suppresses expression of the maternally inherited <i>SGCE</i> allele [<a class="bibr" href="#myo-dystonia.REF.zimprich.2001.66" rid="myo-dystonia.REF.zimprich.2001.66">Zimprich et al 2001</a>].</p><ul><li class="half_rhythm"><div>Consistent with this hypothesis, two studies demonstrated both paternal transmission of an <i>SGCE</i> pathogenic variant in affected individuals and DNA methylation differences consistent with maternal imprinting [<a class="bibr" href="#myo-dystonia.REF.m_ller.2002.1303" rid="myo-dystonia.REF.m_ller.2002.1303">Müller et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.grabowski.2003.138" rid="myo-dystonia.REF.grabowski.2003.138">Grabowski et al 2003</a>].</div></li><li class="half_rhythm"><div>Because about 5% of affected individuals inherit the <i>SGCE</i> pathogenic variant from their mothers [<a class="bibr" href="#myo-dystonia.REF.zimprich.2001.66" rid="myo-dystonia.REF.zimprich.2001.66">Zimprich et al 2001</a>, <a class="bibr" href="#myo-dystonia.REF.grabowski.2003.138" rid="myo-dystonia.REF.grabowski.2003.138">Grabowski et al 2003</a>], the apparent suppression of the M-D phenotype on maternal transmission of the <i>SGCE</i> allele is incomplete. In these instances, the phenotype may be milder. The reasons for loss of the maternal imprint are unknown.</div></li></ul></div><div id="myo-dystonia.Nomenclature"><h3>Nomenclature</h3><p>"Myoclonus-dystonia" is the term used for individuals with an <i>SGCE</i>-like phenotype [<a class="bibr" href="#myo-dystonia.REF.roze.2018.484" rid="myo-dystonia.REF.roze.2018.484">Roze et al 2018</a>]. It is distinguished from "myoclonic dystonia," a condition having a primarily dystonic phenotype with longer duration jerks co-occurring in the dystonic body regions. Additional terms used in the past for <i>SGCE</i>-M-D include "inherited myoclonus-dystonia syndrome," "alcohol-responsive myoclonic dystonia," and "hereditary essential myoclonus" [<a class="bibr" href="#myo-dystonia.REF.quinn.1988.391" rid="myo-dystonia.REF.quinn.1988.391">Quinn et al 1988</a>, <a class="bibr" href="#myo-dystonia.REF.quinn.1996.119" rid="myo-dystonia.REF.quinn.1996.119">Quinn 1996</a>, <a class="bibr" href="#myo-dystonia.REF.lang.1997.127" rid="myo-dystonia.REF.lang.1997.127">Lang 1997</a>].</p></div><div id="myo-dystonia.Prevalence"><h3>Prevalence</h3><p>Little is known about the prevalence of <i>SGCE</i>-M-D. The disease has been described in families of many nationalities including mixed European, German, Irish, Turkish, Brazilian, and Canadian.</p></div></div><div id="myo-dystonia.Genetically_Related_Allelic"><h2 id="_myo-dystonia_Genetically_Related_Allelic_">Genetically Related (Allelic) Disorders</h2><p>No other phenotype is known to be associated with intragenic pathogenic variants in <i>SGCE</i>.</p><p><b>Microdeletion 7q21.</b> At least 15 individuals with 7q21 microdeletions have been reported; most have typical symptoms of <i>SGCE</i>-M-D with a variety of additional features including short stature, facial dysmorphism, intrauterine growth deficiency, microcephaly, cognitive impairment, language delay, psychosis, joint laxity, and bone fractures [<a class="bibr" href="#myo-dystonia.REF.carecchio.2013.787" rid="myo-dystonia.REF.carecchio.2013.787">Carecchio et al 2013</a>, <a class="bibr" href="#myo-dystonia.REF.peall.2014.2296" rid="myo-dystonia.REF.peall.2014.2296">Peall et al 2014</a>]. Sibs in one family were found to have M-D and cognitive impairment; the father and three of his sibs had adult-onset psychosis with no movement disorder [<a class="bibr" href="#myo-dystonia.REF.dale.2011.1774" rid="myo-dystonia.REF.dale.2011.1774">Dale et al 2011</a>].</p><p>One additional individual with M-D, language delay, dysmorphic features, and a seemingly balanced <i>de novo</i> reciprocal translocation was subsequently found to have microdeletions of 7q21 and 9q23 [<a class="bibr" href="#myo-dystonia.REF.bonnet.2008.876" rid="myo-dystonia.REF.bonnet.2008.876">Bonnet et al 2008</a>].</p><p><b>Maternal uniparental disomy (mUPD) of chromosome 7</b> has also been observed in three persons with M-D and <a href="/books/n/gene/rss/?report=reader">Silver-Russell syndrome</a> (SRS) where M-D is presumably due to methylation of both <i>SGCE</i> alleles [<a class="bibr" href="#myo-dystonia.REF.guettard.2008.1380" rid="myo-dystonia.REF.guettard.2008.1380">Guettard et al 2008</a>, <a class="bibr" href="#myo-dystonia.REF.stark.2010.2342" rid="myo-dystonia.REF.stark.2010.2342">Stark et al 2010</a>, <a class="bibr" href="#myo-dystonia.REF.sheridan.2013.368" rid="myo-dystonia.REF.sheridan.2013.368">Sheridan et al 2013</a>].</p></div><div id="myo-dystonia.Differential_Diagnosis"><h2 id="_myo-dystonia_Differential_Diagnosis_">Differential Diagnosis</h2><p>Myoclonic dystonia 26 (OMIM <a href="https://omim.org/entry/616398" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">616398</a>), associated with heterozygous pathogenic variants in <i>KCTD17</i>, is closest in phenotype to <i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D). For further information about myoclonic dystonia 26 and other disorders to consider in the differential diagnosis of <i>SGCE</i>-M-D, see <a href="/books/NBK1414/table/myo-dystonia.T.other_genes_of_interest_i/?report=objectonly" target="object" rid-ob="figobmyodystoniaTothergenesofinteresti">Table 2</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmyodystoniaTothergenesofinteresti"><a href="/books/NBK1414/table/myo-dystonia.T.other_genes_of_interest_i/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobmyodystoniaTothergenesofinteresti"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="myo-dystonia.T.other_genes_of_interest_i"><a href="/books/NBK1414/table/myo-dystonia.T.other_genes_of_interest_i/?report=objectonly" target="object" rid-ob="figobmyodystoniaTothergenesofinteresti">Table 2. </a></h4><p class="float-caption no_bottom_margin">Other Genes of Interest in the Differential Diagnosis of <i>SGCE</i> Myoclonus-Dystonia </p></div></div><p><b>Myoclonic dystonia 15</b> (OMIM <a href="https://omim.org/entry/607488" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607488</a>). A clinically similar M-D phenotype in a large Canadian family without an identifiable <i>SGCE</i> pathogenic variant showed significant evidence for linkage to markers on chromosome 18p (locus DYT15) [<a class="bibr" href="#myo-dystonia.REF.grimes.2002.1183" rid="myo-dystonia.REF.grimes.2002.1183">Grimes et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.han.2007.888" rid="myo-dystonia.REF.han.2007.888">Han et al 2007</a>]. The M-D phenotype of two other families may also be linked to this chromosome region [<a class="bibr" href="#myo-dystonia.REF.sch_le.2004.1181" rid="myo-dystonia.REF.sch_le.2004.1181">Schüle et al 2004</a>]. The overall contribution of this locus to M-D cannot be determined until the gene is identified.</p><p>For a review of various genetic and secondary forms of dystonia, see <a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>.</p></div><div id="myo-dystonia.Management"><h2 id="_myo-dystonia_Management_">Management</h2><div id="myo-dystonia.Evaluations_Following_Initi"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs of an individual diagnosed with <i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D) the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:</p><ul><li class="half_rhythm"><div>Clinical examination to evaluate the location, severity, and progression of dystonia and the severity and progression of myoclonus. This is best done by a neurologic specialist in movement disorders.</div></li><li class="half_rhythm"><div>Consultation with a clinical geneticist and/or genetic counselor.</div></li></ul></div><div id="myo-dystonia.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p><b>Medications</b> may improve myoclonus and/or dystonia:</p><ul><li class="half_rhythm"><div class="half_rhythm">While multiple anti-seizure medications have been reported in case series or individual reports, zonisamide is the first to demonstrate class I evidence of improvement of both myoclonus and dystonia in a double-blind study [<a class="bibr" href="#myo-dystonia.REF.hainque.2016.1729" rid="myo-dystonia.REF.hainque.2016.1729">Hainque et al 2016</a>].</div><div class="half_rhythm">Valproate and levetiracetam may also be used. Topiramate and carbamazepine have been reported to improve myoclonus [<a class="bibr" href="#myo-dystonia.REF.nygaard.1999.794" rid="myo-dystonia.REF.nygaard.1999.794">Nygaard et al 1999</a>, <a class="bibr" href="#myo-dystonia.REF.sanjari_moghaddam.2018.116" rid="myo-dystonia.REF.sanjari_moghaddam.2018.116">Sanjari Moghaddam et al 2018</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Benzodiazepines, particularly clonazepam, improve mostly myoclonus and tremor [<a class="bibr" href="#myo-dystonia.REF.goetz.2001.129" rid="myo-dystonia.REF.goetz.2001.129">Goetz & Horn 2001</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Anticholinergic medication may improve dystonia [<a class="bibr" href="#myo-dystonia.REF.goetz.2001.129" rid="myo-dystonia.REF.goetz.2001.129">Goetz & Horn 2001</a>] and botulinum toxin injection may be especially helpful for cervical dystonia [<a class="bibr" href="#myo-dystonia.REF.berardelli.2002.s70" rid="myo-dystonia.REF.berardelli.2002.s70">Berardelli & Curra 2002</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Improvement of dystonia with L-5-hydroxytryptophan has been reported [<a class="bibr" href="#myo-dystonia.REF.scheidtmann.2000.839" rid="myo-dystonia.REF.scheidtmann.2000.839">Scheidtmann et al 2000</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Improvement with both L-dopa [<a class="bibr" href="#myo-dystonia.REF.luciano.2009.425" rid="myo-dystonia.REF.luciano.2009.425">Luciano et al 2009</a>] and the dopamine-depleting medication tetrabenazine has been reported [<a class="bibr" href="#myo-dystonia.REF.luciano.2014.1423" rid="myo-dystonia.REF.luciano.2014.1423">Luciano et al 2014</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">One individual with <i>SGCE</i>-M-D who represented a simplex case (i.e., a single occurrence of M-D in the family) showed a robust response to zolpidem [<a class="bibr" href="#myo-dystonia.REF.park.2009.2172" rid="myo-dystonia.REF.park.2009.2172">Park et al 2009</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Gamma-hydroxybutyrate [<a class="bibr" href="#myo-dystonia.REF.priori.2000.1706" rid="myo-dystonia.REF.priori.2000.1706">Priori et al 2000</a>] and sodium oxybate may improve myoclonus [<a class="bibr" href="#myo-dystonia.REF.frucht.2005.1330" rid="myo-dystonia.REF.frucht.2005.1330">Frucht et al 2005</a>].</div></li></ul><p>Note: Although the symptoms of <i>SGCE</i>-M-D usually resolve with ingestion of alcohol, the risk of long-term addiction to alcohol renders it an unacceptable treatment option.</p><p><b>Deep brain stimulation (DBS).</b> Studies of globus pallidus interna (Gpi) and/or ventral intermediate nucleus of the thalamus (VIM) DBS in individuals with M-D determined that both were effective long-term treatments, although GPi is now the more frequently chosen target. Marked improvement in both myoclonus and dystonia as well as good quality of life and social adjustment were seen in a cohort of nine individuals with <i>SGCE</i>-M-D who had GPi DBS for at least five years [<a class="bibr" href="#myo-dystonia.REF.kosutzka.2019.87" rid="myo-dystonia.REF.kosutzka.2019.87">Kosutzka et al 2019</a>]. In individuals with a predominant myoclonus phenotype undergoing VIM DBS (3 individuals with <i>SGCE</i> M-D; 2 individuals without an <i>SGCE</i> pathogenic variant), sustained improvement of both myoclonus and dystonia was found over 50 months [<a class="bibr" href="#myo-dystonia.REF.zhang.2019.e933" rid="myo-dystonia.REF.zhang.2019.e933">Zhang et al 2019</a>].</p><p>Stereotactic thalamotomy can improve myoclonus, but caused dysarthria in one individual and mild hemiparesis in another [<a class="bibr" href="#myo-dystonia.REF.gasser.1996.363" rid="myo-dystonia.REF.gasser.1996.363">Gasser et al 1996</a>]. In two others, myoclonus improved, but without significant gain in function [<a class="bibr" href="#myo-dystonia.REF.suchowersky.2000.332" rid="myo-dystonia.REF.suchowersky.2000.332">Suchowersky et al 2000</a>].</p></div><div id="myo-dystonia.Prevention_of_Secondary_Com"><h3>Prevention of Secondary Complications</h3><p>As self-treatment with alcohol is common, proper treatment and counseling regarding alcohol abuse may decrease alcohol-related toxicities, particularly in adolescents.</p></div><div id="myo-dystonia.Surveillance"><h3>Surveillance</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmyodystoniaTrecommendedsurveillance"><a href="/books/NBK1414/table/myo-dystonia.T.recommended_surveillance/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobmyodystoniaTrecommendedsurveillance"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="myo-dystonia.T.recommended_surveillance"><a href="/books/NBK1414/table/myo-dystonia.T.recommended_surveillance/?report=objectonly" target="object" rid-ob="figobmyodystoniaTrecommendedsurveillance">Table 3. </a></h4><p class="float-caption no_bottom_margin">Recommended Surveillance for Individuals with Myoclonus-Dystonia </p></div></div></div><div id="myo-dystonia.AgentsCircumstances_to_Avoi"><h3>Agents/Circumstances to Avoid</h3><p>Use of alcohol to ameliorate symptoms should be avoided due to the risk of alcohol dependence.</p></div><div id="myo-dystonia.Evaluation_of_Relatives_at"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#myo-dystonia.Related_Genetic_Counseling">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="myo-dystonia.Pregnancy_Management"><h3>Pregnancy Management</h3><p>There is concern about teratogenicity with certain anti-seizure medications that are sometimes used in the treatment of myoclonus-dystonia. These should be avoided in women considering pregnancy or who are known to be pregnant. Discussion of the risks and benefits of using a given anti-seizure drug during pregnancy should ideally take place prior to conception. Women with M-D should be counseled about abstaining from alcohol during pregnancy, particularly during the first trimester, as alcohol negatively affects fetal development.</p><p>See <a href="https://www.mothertobaby.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">MotherToBaby</a> for further information on medication use during pregnancy.</p></div><div id="myo-dystonia.Therapies_Under_Investigati"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="myo-dystonia.Genetic_Counseling"><h2 id="_myo-dystonia_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="myo-dystonia.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p><i>SGCE</i> myoclonus-dystonia (<i>SGCE</i>-M-D) is inherited in an autosomal dominant manner with penetrance determined by the parental origin of the altered <i>SGCE</i> allele. An <i>SGCE</i> pathogenic variant on the paternally derived (expressed) <i>SGCE</i> allele generally results in disease; a pathogenic variant on the maternally derived (silenced) <i>SGCE</i> allele typically does not result in disease.</p></div><div id="myo-dystonia.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>Most individuals diagnosed with <i>SGCE</i>-M-D inherited a pathogenic variant from a heterozygous parent who may or may not have clinical signs of M-D. Because <i>SGCE</i>-M-D shows reduced penetrance, the parent of an affected individual may have the pathogenic allele without showing clinical signs [<a class="bibr" href="#myo-dystonia.REF.m_ller.2002.1303" rid="myo-dystonia.REF.m_ller.2002.1303">Müller et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.hedrich.2004.1229" rid="myo-dystonia.REF.hedrich.2004.1229">Hedrich et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.kock.2004.231" rid="myo-dystonia.REF.kock.2004.231">Kock et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.gerrits.2009.178" rid="myo-dystonia.REF.gerrits.2009.178">Gerrits et al 2009</a>]. The mechanism of reduced penetrance is related to maternal imprinting and, therefore, based on the parental origin of the pathogenic variant. In general, maternally derived alleles are silenced and paternally derived <i>SGCE</i> alleles are expressed.</div></li><li class="half_rhythm"><div>A proband with M-D may have the disorder as the result of a <i>de novo</i>
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<i>SGCE</i> pathogenic variant [<a class="bibr" href="#myo-dystonia.REF.hedrich.2004.1229" rid="myo-dystonia.REF.hedrich.2004.1229">Hedrich et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2007.2736" rid="myo-dystonia.REF.asmus.2007.2736">Asmus et al 2007</a>, <a class="bibr" href="#myo-dystonia.REF.borges.2007.1208" rid="myo-dystonia.REF.borges.2007.1208">Borges et al 2007</a>]; to date only three <i>de novo</i> cases have been reported.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a proband who appears to represent a simplex case (i.e., a single occurrence in a family). Since the <i>SGCE</i> variant was likely inherited from the father, it may be appropriate to evaluate the father first.</div></li><li class="half_rhythm"><div>If the pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, possible explanations include a <i>de novo</i> pathogenic variant in the proband or germline mosaicism in a parent. Though theoretically possible, no instances of germline mosaicism have been reported.</div></li><li class="half_rhythm"><div>Although most individuals diagnosed with M-D inherited the pathogenic allele from a parent, the family history may appear to be negative because of either the effects of imprinting or failure to recognize the disorder in family members. Since it is possible for affected family members to self-medicate with alcohol, a family history of alcoholism may be indicative of additional affected relatives. Therefore, an apparently negative family history cannot be confirmed unless appropriate molecular genetic testing has been performed on the parents of the proband.</div></li></ul><p><b>Sibs of a proband.</b> The risk to the sibs of a proband depends on the genetic status of the parents:</p><ul><li class="half_rhythm"><div>If a parent of the proband is affected, the risk to the sibs of inheriting the pathogenic allele is 50%. Expression of the pathogenic <i>SGCE</i> allele is influenced by the sex of the parent transmitting the allele (imprinting).</div><ul><li class="half_rhythm"><div>If the <i>SGCE</i> pathogenic variant is inherited from the father, it is typically expressed and most often the offspring is symptomatic.</div></li><li class="half_rhythm"><div>If the <i>SGCE</i> pathogenic variant is inherited from the mother, most often it is not expressed and the child remains symptom-free. However, about 5% of individuals who inherit the pathogenic variant from their mother do develop symptoms, indicating that the apparent suppression of the phenotype by maternal inheritance of a pathogenic <i>SGCE</i> allele is incomplete and loss of the maternal imprint occurs at a low frequency. Symptoms in individuals who have a maternally derived <i>SGCE</i> pathogenic variant may be milder than in those who inherit the pathogenic variant from their fathers.</div></li></ul></li><li class="half_rhythm"><div>Because of intrafamilial clinical variability, symptomatic sibs may be more or less severely affected than the proband and have different M-D-related findings.</div></li><li class="half_rhythm"><div>If the proband has a known <i>SGCE</i> pathogenic variant that cannot be detected in the leukocyte DNA of either parent, the risk to sibs of inheriting a pathogenic variant is estimated to be 1% because of the theoretic possibility of parental germline mosaicism [<a class="bibr" href="#myo-dystonia.REF.rahbari.2016.126" rid="myo-dystonia.REF.rahbari.2016.126">Rahbari et al 2016</a>].</div></li><li class="half_rhythm"><div>If the parents have not been tested for the <i>SGCE</i> pathogenic variant but are clinically unaffected, sibs are still presumed to be at increased risk for <i>SGCE</i>-M-D because of the possibility of reduced penetrance in a heterozygous parent or the theoretic possibility of parental germline mosaicism.</div></li></ul><p><b>Offspring of a proband.</b> Each child of an individual with <i>SGCE</i>-M-D has a 50% chance of inheriting the pathogenic variant.</p><ul><li class="half_rhythm"><div>If the proband is male, it is likely that all of his children who inherit the pathogenic variant will develop symptoms.</div></li><li class="half_rhythm"><div>If the proband is female, about 5% of her children who inherit the pathogenic variant will develop symptoms.</div></li><li class="half_rhythm"><div>Symptomatic offspring of a proband may be more or less severely affected than the proband.</div></li></ul><p><b>Other family members.</b> The risk to other family members depends on the genetic status of the proband's parents: if a parent is affected and/or is known to have an <i>SGCE</i> pathogenic variant, his or her family members are at risk.</p></div><div id="myo-dystonia.Related_Genetic_Counseling"><h3>Related Genetic Counseling Issues</h3><p><b>Considerations in families with an apparent <i>de novo</i> pathogenic variant.</b> When neither parent of a proband with an autosomal dominant condition has the pathogenic variant identified in the proband or clinical evidence of the disorder, the pathogenic variant is likely <i>de novo</i>. However, non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.</p><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.</div></li></ul></div><div id="myo-dystonia.Prenatal_Testing_and_Preimp"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>SGCE</i> pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible. The results of prenatal testing are not useful in predicting age of onset, severity, type of symptoms, or rate of progression of <i>SGCE</i>-M-D.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="myo-dystonia.Resources"><h2 id="_myo-dystonia_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>Dystonia Medical Research Foundation</b>
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</div><div><b>Phone:</b> 312-755-0198; 800-377-DYST (3978)</div><div><b>Email:</b> dystonia@dystonia-foundation.org</div><div>
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<a href="http://www.dystonia-foundation.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">dystonia-foundation.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>Dystonia UK</b>
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</div><div>United Kingdom</div><div><b>Email:</b> info@dystonia.org.uk</div><div>
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<a href="http://www.dystonia.org.uk" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">dystonia.org.uk</a>
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</div></li><li class="half_rhythm"><div>
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<b>National Institute of Neurological Disorders and Stroke (NINDS)</b>
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</div><div>PO Box 5801</div><div>Bethesda MD 20824</div><div><b>Phone:</b> 800-352-9424 (toll-free); 301-496-5751; 301-468-5981 (TTY)</div><div>
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<a href="https://www.ninds.nih.gov/Disorders/All-Disorders/Dystonias-Information-Page" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Dystonias Information Page</a>
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</div></li><li class="half_rhythm"><div>
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<b>Global Dystonia Registry</b>
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</div><div>Dystonia Medical Research Foundation</div><div><b>Email:</b> Coordinator@globaldystoniaregistry.org</div><div>
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<a href="http://www.globaldystoniaregistry.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">globaldystoniaregistry.org</a>
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</div></li></ul>
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</div><div id="myo-dystonia.Molecular_Genetics"><h2 id="_myo-dystonia_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmyodystoniamolgenTA"><a href="/books/NBK1414/table/myo-dystonia.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobmyodystoniamolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="myo-dystonia.molgen.TA"><a href="/books/NBK1414/table/myo-dystonia.molgen.TA/?report=objectonly" target="object" rid-ob="figobmyodystoniamolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">SGCE Myoclonus-Dystonia: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmyodystoniamolgenTB"><a href="/books/NBK1414/table/myo-dystonia.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobmyodystoniamolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="myo-dystonia.molgen.TB"><a href="/books/NBK1414/table/myo-dystonia.molgen.TB/?report=objectonly" target="object" rid-ob="figobmyodystoniamolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for SGCE Myoclonus-Dystonia (View All in OMIM) </p></div></div><p>The sarcoglycan gene family includes alpha, beta, gamma, delta, epsilon, and zeta sarcoglycans. In muscles, these genes encode transmembrane components of the dystrophin-glycoprotein complex, which link the cytoskeleton to the extracellular matrix. <i>SGCE</i> encodes epsilon-sarcoglycan, which is widely expressed in many tissues of the body [<a class="bibr" href="#myo-dystonia.REF.ettinger.1997.32534" rid="myo-dystonia.REF.ettinger.1997.32534">Ettinger et al 1997</a>, <a class="bibr" href="#myo-dystonia.REF.mcnally.1998.27" rid="myo-dystonia.REF.mcnally.1998.27">McNally et al 1998</a>] including various regions of the brain both during development and adulthood [<a class="bibr" href="#myo-dystonia.REF.ritz.2011.438" rid="myo-dystonia.REF.ritz.2011.438">Ritz et al 2011</a>, <a class="bibr" href="#myo-dystonia.REF.xiao.2017.52" rid="myo-dystonia.REF.xiao.2017.52">Xiao et al 2017</a>]. The function of epsilon-sarcoglycan in the brain is unknown.</p><p><i>SGCE</i> comprises 13 exons; exon 10 is differentially spliced and absent from most transcripts, exon 11b is brain specific, and exon 8 is rarely expressed in the brain. Other alternatively spliced exons have been noted but account for >1% of transcripts [<a class="bibr" href="#myo-dystonia.REF.ritz.2011.438" rid="myo-dystonia.REF.ritz.2011.438">Ritz et al 2011</a>]. See <a href="/books/NBK1414/?report=reader#myo-dystonia.molgen.TA">Table A</a>, <b>Gene</b> for a detailed summary of gene and protein information.</p><p><b>Mechanism of disease causation.</b> It is speculated that because maternal imprinting transcriptionally silences <i>SGCE</i> and the vast majority of affected individuals inherit their disease allele from their fathers, the disease is caused by loss of function of this protein. However, about 5% of affected individuals inherit their abnormal allele from their mothers and presumably also express the wild type allele from their fathers. Therefore, the mechanism of disease pathogenesis is not entirely clear.</p><p>More than 100 pathogenic variants in <i>SGCE</i> have been reported in HGMD (see <a href="/books/NBK1414/?report=reader#myo-dystonia.molgen.TA">Table A</a>, <b>Genes and Databases</b>). Reported pathogenic variants include nonsense and missense variants, deletions, and insertions leading to frame shifts and splicing errors as well as exon deletions [<a class="bibr" href="#myo-dystonia.REF.zimprich.2001.66" rid="myo-dystonia.REF.zimprich.2001.66">Zimprich et al 2001</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2002.489" rid="myo-dystonia.REF.asmus.2002.489">Asmus et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.doheny.2002.1187" rid="myo-dystonia.REF.doheny.2002.1187">Doheny et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.klein.2002.675" rid="myo-dystonia.REF.klein.2002.675">Klein et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.m_ller.2002.1303" rid="myo-dystonia.REF.m_ller.2002.1303">Müller et al 2002</a>, <a class="bibr" href="#myo-dystonia.REF.deberardinis.2003.31" rid="myo-dystonia.REF.deberardinis.2003.31">DeBerardinis et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.foncke.2003.1988" rid="myo-dystonia.REF.foncke.2003.1988">Foncke et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.han.2003.244" rid="myo-dystonia.REF.han.2003.244">Han et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.hjermind.2003.1536" rid="myo-dystonia.REF.hjermind.2003.1536">Hjermind et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.mar_chal.2003.114" rid="myo-dystonia.REF.mar_chal.2003.114">Maréchal et al 2003</a>, <a class="bibr" href="#myo-dystonia.REF.hedrich.2004.1229" rid="myo-dystonia.REF.hedrich.2004.1229">Hedrich et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.kock.2004.231" rid="myo-dystonia.REF.kock.2004.231">Kock et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.sch_le.2004.1181" rid="myo-dystonia.REF.sch_le.2004.1181">Schüle et al 2004</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2005.792" rid="myo-dystonia.REF.asmus.2005.792">Asmus et al 2005</a>, <a class="bibr" href="#myo-dystonia.REF.valente.2005.737" rid="myo-dystonia.REF.valente.2005.737">Valente et al 2005</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2007.2736" rid="myo-dystonia.REF.asmus.2007.2736">Asmus et al 2007</a>, <a class="bibr" href="#myo-dystonia.REF.han.2007.888" rid="myo-dystonia.REF.han.2007.888">Han et al 2007</a>, <a class="bibr" href="#myo-dystonia.REF.gr_newald.2008.331" rid="myo-dystonia.REF.gr_newald.2008.331">Grünewald et al 2008</a>, <a class="bibr" href="#myo-dystonia.REF.ritz.2009.653" rid="myo-dystonia.REF.ritz.2009.653">Ritz et al 2009</a>].</p><p>Gene deletions in <i>SGCE</i> also cause M-D usually with other features (see 7q21 microdeletions) [<a class="bibr" href="#myo-dystonia.REF.carecchio.2013.787" rid="myo-dystonia.REF.carecchio.2013.787">Carecchio et al 2013</a>, <a class="bibr" href="#myo-dystonia.REF.peall.2014.2296" rid="myo-dystonia.REF.peall.2014.2296">Peall et al 2014</a>].</p><p>Of note, while only about 50% of individuals with clinical features of M-D are found to have a pathogenic variant in <i>SGCE</i>, the detection rate increases when paternal transmission is recognized [<a class="bibr" href="#myo-dystonia.REF.ritz.2009.653" rid="myo-dystonia.REF.ritz.2009.653">Ritz et al 2009</a>].</p></div><div id="myo-dystonia.References"><h2 id="_myo-dystonia_References_">References</h2><div id="myo-dystonia.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.asmus.2007.2736">Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. <span><span class="ref-journal">Brain. </span>2007;<span class="ref-vol">130</span>:2736–45.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17898012" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17898012</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.asmus.2005.792">Asmus F, Salih F, Hjermind LE, Ostergaard K, Munz M, Kühn AA, Dupont E, Kupsch A, Gasser T. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. <span><span class="ref-journal">Ann Neurol. </span>2005;<span class="ref-vol">58</span>:792–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16240355" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16240355</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.asmus.2001.121">Asmus F, Zimprich A, Naumann M, Berg D, Bertram M, Ceballos-Baumann A, Pruszak-Seel R, Kabus C, Dichgans M, Fuchs S, Muller-Myhsok B, Gasser T. Inherited myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families. <span><span class="ref-journal">Ann Neurol. </span>2001;<span class="ref-vol">49</span>:121–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11198282" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11198282</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.asmus.2002.489">Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kuhn AA, Strom TM, Vidailhet M, Bhatia KP, Durr A, Wood NW, Brice A, Gasser T. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. <span><span class="ref-journal">Ann Neurol. </span>2002;<span class="ref-vol">52</span>:489–92.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12325078" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12325078</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.berardelli.2002.s70">Berardelli A, Curra A. Pathophysiology and treatment of cranial dystonia. <span><span class="ref-journal">Mov Disord. </span>2002;<span class="ref-vol">17</span> Suppl 2:S70–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11836760" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11836760</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.bonnet.2008.876">Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. <span><span class="ref-journal">J Hum Genet. </span>2008;<span class="ref-vol">53</span>:876–85.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18651096" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18651096</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.borges.2007.1208">Borges V, Aguiar Pde C, Ferraz HB, Ozelius LJ. 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The DYT1 phenotype and guidelines for diagnostic testing. <span><span class="ref-journal">Neurology. </span>2000;<span class="ref-vol">54</span>:1746–52.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10802779" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10802779</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="myo-dystonia.REF.carecchio.2013.787">Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. 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Mount Sinai Beth Israel
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New York, New York<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.ianistnuom@dnomyard" class="oemail">gro.ianistnuom@dnomyard</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Rachel Saunders-Pullman</span>, MD, MPH<div class="affiliation small">Department of Neurology
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Mount Sinai Beth Israel
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New York, New York<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.ianistnuom@namllup-srednuas.lehcar" class="oemail">gro.ianistnuom@namllup-srednuas.lehcar</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Laurie Ozelius</span>, PhD<div class="affiliation small">Department of Neurology
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Massachusetts General Hospital
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Charlestown, Massachusetts<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.srentrap@suilezol" class="oemail">gro.srentrap@suilezol</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">May 21, 2003</span>; Last Revision: <span itemprop="dateModified">June 4, 2020</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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a registered trademark of the University of Washington, Seattle. All rights
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reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Raymond D, Saunders-Pullman R, Ozelius L. SGCE Myoclonus-Dystonia. 2003 May 21 [Updated 2020 Jun 4]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/setd2-ndd/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/cmt4c/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobmyodystoniaTmoleculargenetictesting"><div id="myo-dystonia.T.molecular_genetic_testing" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>SGCE</i> Myoclonus-Dystonia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1414/table/myo-dystonia.T.molecular_genetic_testing/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__myo-dystonia.T.molecular_genetic_testing_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>SGCE</i>
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</td><td headers="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~75% <sup>4</sup></td></tr><tr><td headers="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_myo-dystonia.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~25% <sup>6</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="myo-dystonia.TF.1.1"><p class="no_margin">See <a href="/books/NBK1414/?report=reader#myo-dystonia.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="myo-dystonia.TF.1.2"><p class="no_margin">See <a href="#myo-dystonia.Molecular_Genetics">Molecular Genetics</a> for information on allelic variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="myo-dystonia.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="myo-dystonia.TF.1.4"><p class="no_margin"><a class="bibr" href="#myo-dystonia.REF.tezenas_du_montcel.2006.394" rid="myo-dystonia.REF.tezenas_du_montcel.2006.394">Tezenas du Montcel et al [2006]</a>, <a class="bibr" href="#myo-dystonia.REF.raymond.2008.588" rid="myo-dystonia.REF.raymond.2008.588">Raymond et al [2008]</a>, <a class="bibr" href="#myo-dystonia.REF.roze.2008.1010" rid="myo-dystonia.REF.roze.2008.1010">Roze et al [2008]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="myo-dystonia.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="myo-dystonia.TF.1.6"><p class="no_margin"><a class="bibr" href="#myo-dystonia.REF.deberardinis.2003.31" rid="myo-dystonia.REF.deberardinis.2003.31">DeBerardinis et al [2003]</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2005.792" rid="myo-dystonia.REF.asmus.2005.792">Asmus et al [2005]</a>, <a class="bibr" href="#myo-dystonia.REF.asmus.2007.2736" rid="myo-dystonia.REF.asmus.2007.2736">Asmus et al [2007]</a>, <a class="bibr" href="#myo-dystonia.REF.han.2007.888" rid="myo-dystonia.REF.han.2007.888">Han et al [2007]</a>, <a class="bibr" href="#myo-dystonia.REF.gr_newald.2008.331" rid="myo-dystonia.REF.gr_newald.2008.331">Grünewald et al [2008]</a>, <a class="bibr" href="#myo-dystonia.REF.ritz.2009.653" rid="myo-dystonia.REF.ritz.2009.653">Ritz et al [2009]</a>, <a class="bibr" href="#myo-dystonia.REF.peall.2014.2296" rid="myo-dystonia.REF.peall.2014.2296">Peall et al [2014]</a></p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmyodystoniaTothergenesofinteresti"><div id="myo-dystonia.T.other_genes_of_interest_i" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Other Genes of Interest in the Differential Diagnosis of <i>SGCE</i> Myoclonus-Dystonia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1414/table/myo-dystonia.T.other_genes_of_interest_i/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__myo-dystonia.T.other_genes_of_interest_i_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene(s)</th><th id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" style="text-align:left;vertical-align:middle;">DiffDx Disorder</th><th id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Key Clinical Features of DiffDx Disorder</th></tr><tr><th headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4" id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/<i>SGCE</i>-M-D</th><th headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4" id="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from <i>SGCE</i>-M-D</th></tr></thead><tbody><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ADCY5</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/adcy5-dysk/?report=reader"><i>ADCY5</i>-related dyskinesia</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Possible cause of isolated M-D <sup>1</sup></div></li><li class="half_rhythm"><div>Often childhood onset <sup>2</sup></div></li></ul>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Typically assoc w/addl features (e.g., chorea, early motor delay, alternating hemiplegia of childhood)</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATM</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variant <a href="/books/n/gene/ataxia-telangiectas/?report=reader">ataxia-telangiectasia</a> <sup>3</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dystonia only or dystonia w/myoclonus may be present.</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Observed in Mennonite families of Russian origin</div></li><li class="half_rhythm"><div>High cancer frequency & adverse responses to chemotherapeutic agents assoc w/a common <i>ATM</i> haplotype & homozygosity for c.6200C>A</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATN1</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, epilepsy</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In children:
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<ul><li class="half_rhythm"><div>Ataxia</div></li><li class="half_rhythm"><div>Progressive intellectual deterioration</div></li></ul>
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In adults:
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<ul><li class="half_rhythm"><div>Ataxia</div></li><li class="half_rhythm"><div>Choreoathetosis</div></li><li class="half_rhythm"><div>Dementia or character changes</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATP7B</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/wilson/?report=reader">Wilson disease</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dystonia</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Biochemical findings: ↓ serum copper & ceruloplasmin concentrations; ↑ urinary copper excretion</div></li><li class="half_rhythm"><div>Kayser-Fleischer corneal ring</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATXN3</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar ataxia type 3</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dystonia in 1 person</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cerebellar ataxia, pyramidal signs, pontocerebellar atrophy</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>CSTB</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/epm1/?report=reader">Unverricht-Lundborg disease</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, seizures</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Ataxia, incoordination, intentional tremor, & dysarthria</div></li><li class="half_rhythm"><div>Emotional lability, depression, & mild ↓ in intellectual performance over time</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>EPM2A</i>
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<br />
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<i>NHLRC1</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/lafora/?report=reader">Progressive myoclonus epilepsy, Lafora type</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus, seizures</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>↑ frequency & intractability of seizures</div></li><li class="half_rhythm"><div>Cognitive decline apparent at or soon after onset of seizures</div></li><li class="half_rhythm"><div>Dysarthria & ataxia appear early; spasticity appears late.</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GCH1</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/drd/?report=reader">GTP cyclohydrolase 1-deficient dopa-responsive dystonia</a>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">M-D in 1 person <sup>4</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Dramatic & sustained response to levodopa</div></li><li class="half_rhythm"><div>Typically presents w/gait disturbance, later development of parkinsonism, & diurnal fluctuation of symptoms</div></li></ul>
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</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>GNB1</i>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<p>
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<a href="/books/n/gene/gnb1-e/?report=reader"><i>GNB1</i> encephalopathy</a>
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</p>
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</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">M-D in 1 person w/comorbid OCD & mild DD, <sup>5</sup> neurodevelopmental delay, & other features incl dystonia in 46 others <sup>6</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person w/M-D:
|
|
<ul><li class="half_rhythm"><div>Mild ID</div></li><li class="half_rhythm"><div>Limited upgaze, hypotonia, & OCD</div></li></ul>
|
|
In others w/dystonia:
|
|
<ul><li class="half_rhythm"><div>Notable DD & growth delay, seizures, hypotonia, abnormal MRI</div></li><li class="half_rhythm"><div>Other symptoms may incl genitourinary & gastrointestinal abnormality, vision, hearing, cardiac, & hematologic abnormalities.</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>KCTD17</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonic dystonia 26 (OMIM <a href="https://omim.org/entry/616398" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">616398</a>)</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early-onset myoclonic jerks; development of dystonia later in life (in 4 persons)</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early motor delay, severe lingual dystonia, & mild cognitive delay in 2 families w/splice variants <sup>7</sup></td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">mtDNA</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<p>
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|
<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
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|
</p>
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|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mat</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus; seizures</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ataxia & ragged red fibers on muscle biopsy</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>NKX2-1</i> <sup>8</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Benign hereditary chorea (OMIM <a href="https://omim.org/entry/118700" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">118700</a>)</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Myoclonus</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Does not demonstrate aggravation of jerks w/complex motor tasks (in contrast to action-induced myoclonus of M-D).</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>PRKCG</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/sca14/?report=reader">Spinocerebellar ataxia type 14</a>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">M-D in 1 person <sup>9</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Slowly progressive cerebellar ataxia, dysarthria, & nystagmus</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RELN</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>RELN</i> myoclonus-dystonia <sup>7</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Seemingly typical adult-onset M-D reported in 3 families & 2 simplex cases</div></li><li class="half_rhythm"><div>Alcohol responsiveness & psychiatric comorbidities (5 persons) <sup>10</sup></div></li></ul>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Mean onset: age 22 yrs</div></li><li class="half_rhythm"><div>Latest onset: age 53 yrs</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TOR1A</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/dystonia/?report=reader">DYT1 early-onset isolated dystonia</a>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unusual presentation of alcohol-responsive M-D in 1 person <sup>11</sup></td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cervical dystonia is uncommon in DYT1 dystonia.</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TTPA</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/aved/?report=reader">Ataxia with vitamin E deficiency</a>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dystonia</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>1st symptoms incl progressive ataxia, clumsiness of hands, loss of proprioception, & areflexia.</div></li><li class="half_rhythm"><div>Cerebellar atrophy</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TUBB2B</i>
|
|
</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>TUBB2B</i> tubulinopathy (mild form) <sup>12</sup><br />(See <a href="/books/n/gene/tubulin-ov/?report=reader">Tubulinopathies Overview</a>.)</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">M-D in 1 person</td><td headers="hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_1_4 hd_h_myo-dystonia.T.other_genes_of_interest_i_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Mild cognitive impairment & skeletal anomalies</div></li><li class="half_rhythm"><div>Asymmetric pachygyria & dysmorphic basal ganglia on neuroimaging <sup>12</sup></div></li></ul>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; DiffDx = differential diagnoisis; ID = intellectual disability; Mat = maternal inheritance; M-D = myoclonus-dystonia; MOI = mode of inheritance; OCD = obsessive-compulsive disorder</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="myo-dystonia.TF.2.1"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.douglas.2017.111" rid="myo-dystonia.REF.douglas.2017.111">Douglas et al [2017]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="myo-dystonia.TF.2.2"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.chen.2015.2026" rid="myo-dystonia.REF.chen.2015.2026">Chen et al [2015]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="myo-dystonia.TF.2.3"><p class="no_margin"><a class="bibr" href="#myo-dystonia.REF.saunderspullman.2012.649" rid="myo-dystonia.REF.saunderspullman.2012.649">Saunders-Pullman et al [2012]</a>, <a class="bibr" href="#myo-dystonia.REF.levy.2018.1238" rid="myo-dystonia.REF.levy.2018.1238">Levy & Lang [2018]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="myo-dystonia.TF.2.4"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.leuzzi.2002.1241" rid="myo-dystonia.REF.leuzzi.2002.1241">Leuzzi et al [2002]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="myo-dystonia.TF.2.5"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.jones.2019.1079" rid="myo-dystonia.REF.jones.2019.1079">Jones et al [2019]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="myo-dystonia.TF.2.6"><p class="no_margin"><a class="bibr" href="#myo-dystonia.REF.petrovski.2016.1001" rid="myo-dystonia.REF.petrovski.2016.1001">Petrovski et al [2016]</a>, <a class="bibr" href="#myo-dystonia.REF.steinr_cke.2016.e106" rid="myo-dystonia.REF.steinr_cke.2016.e106">Steinrücke et al [2016]</a>, <a class="bibr" href="#myo-dystonia.REF.lohmann.2017.1078" rid="myo-dystonia.REF.lohmann.2017.1078">Lohmann et al [2017]</a>, <a class="bibr" href="#myo-dystonia.REF.hemati.2018.2259" rid="myo-dystonia.REF.hemati.2018.2259">Hemati et al [2018]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="myo-dystonia.TF.2.7"><p class="no_margin"><a class="bibr" href="#myo-dystonia.REF.mencacci.2015.938" rid="myo-dystonia.REF.mencacci.2015.938">Mencacci et al [2015]</a>, <a class="bibr" href="#myo-dystonia.REF.graziola.2019.4" rid="myo-dystonia.REF.graziola.2019.4">Graziola et al [2019]</a>, <a class="bibr" href="#myo-dystonia.REF.marc_grau.2019.7" rid="myo-dystonia.REF.marc_grau.2019.7">Marcé-Grau et al [2019]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="myo-dystonia.TF.2.8"><p class="no_margin">Because of the association of hypothyroidism with pathogenic variants in <i>NKX2-1</i>, thyroid hormone screening should be considered in affected individuals. See OMIM <a href="https://omim.org/entry/118700" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">118700</a>, <a href="https://omim.org/entry/610978" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610978</a>, <a href="https://omim.org/entry/600635" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600635</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>9. </dt><dd><div id="myo-dystonia.TF.2.9"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.foncke.2010.288" rid="myo-dystonia.REF.foncke.2010.288">Foncke et al [2010]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>10. </dt><dd><div id="myo-dystonia.TF.2.10"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.groen.2015.415" rid="myo-dystonia.REF.groen.2015.415">Groen et al [2015]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>11. </dt><dd><div id="myo-dystonia.TF.2.11"><p class="no_margin">A male with alcohol-responsive M-D who had the typical three-base pair deletion in <i>TOR1A</i> and no pathogenic variant in <i>SGCE</i> was reported [<a class="bibr" href="#myo-dystonia.REF.tezenas_du_montcel.2006.394" rid="myo-dystonia.REF.tezenas_du_montcel.2006.394">Tezenas du Montcel et al 2006</a>]. His mother was Ashkenazi Jewish and had only writer's cramp.</p></div></dd></dl><dl class="bkr_refwrap"><dt>12. </dt><dd><div id="myo-dystonia.TF.2.12"><p class="no_margin">
|
|
<a class="bibr" href="#myo-dystonia.REF.geiger.2017.216" rid="myo-dystonia.REF.geiger.2017.216">Geiger et al [2017]</a>
|
|
</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmyodystoniaTrecommendedsurveillance"><div id="myo-dystonia.T.recommended_surveillance" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with Myoclonus-Dystonia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1414/table/myo-dystonia.T.recommended_surveillance/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__myo-dystonia.T.recommended_surveillance_lrgtbl__"><table><thead><tr><th id="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Neurologic</b>
|
|
</td><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neurologic exam to assess burden of myoclonus & dystonia & review therapy & side effects</td><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr><tr><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Psychiatric</b>
|
|
</td><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval for psychiatric features</td><td headers="hd_h_myo-dystonia.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobmyodystoniamolgenTA"><div id="myo-dystonia.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>SGCE Myoclonus-Dystonia: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1414/table/myo-dystonia.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__myo-dystonia.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_myo-dystonia.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
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<a href="/gene/8910" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>SGCE</i>
|
|
</a>
|
|
</td><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=8910" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">7q21<wbr style="display:inline-block"></wbr>​.3</a>
|
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</td><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
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<a href="http://www.uniprot.org/uniprot/O43556" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Epsilon-sarcoglycan</a>
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</td><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://databases.lovd.nl/shared/genes/SGCE" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SGCE homepage - Leiden Muscular Dystrophy pages</a>
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</td><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SGCE" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SGCE</a>
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</td><td headers="hd_b_myo-dystonia.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=SGCE[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">SGCE</a>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="myo-dystonia.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
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<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
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chromosome locus from
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<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
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protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
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For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
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<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmyodystoniamolgenTB"><div id="myo-dystonia.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for SGCE Myoclonus-Dystonia (<a href="/omim/159900,604149" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1414/table/myo-dystonia.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__myo-dystonia.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/159900" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">159900</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DYSTONIA 11, MYOCLONIC; DYT11</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/604149" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">604149</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">SARCOGLYCAN, EPSILON; SGCE</td></tr></tbody></table></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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