<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1688-0390</journal-id>
<journal-title><![CDATA[Revista Médica del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Méd. Urug.]]></abbrev-journal-title>
<issn>1688-0390</issn>
<publisher>
<publisher-name><![CDATA[Sindicato Médico del Uruguay]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-03902019000300160</article-id>
<article-id pub-id-type="doi">10.29193/rmu.35.3.7</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Atrofia muscular espinal y bulbar: enfermedad de Kennedy. Aspectos clínicos y genéticos]]></article-title>
<article-title xml:lang="en"><![CDATA[Spinal and bulbar muscular atrophy (SBMA): Kennedy&#8217;s disease. Clinical and genetic aspects]]></article-title>
<article-title xml:lang="pt"><![CDATA[Atrofia muscular bulbo-espinal: doença de Kennedy. Aspectos clínicos e genéticos]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moraes]]></surname>
<given-names><![CDATA[Mariana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Calvo]]></surname>
<given-names><![CDATA[Judith]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montano]]></surname>
<given-names><![CDATA[Nélida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez]]></surname>
<given-names><![CDATA[Ximena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quadrelli]]></surname>
<given-names><![CDATA[Roberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vaglio]]></surname>
<given-names><![CDATA[Alicia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Italiano Instituto de Genética Médica ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Asociación Española  ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Italiano Instituto de Genética Médica ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Italiano Instituto de Genética Médica ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Hospital Italiano Instituto de Genética Médica ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Hospital Italiano Instituto de Genética Médica ]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2019</year>
</pub-date>
<volume>35</volume>
<numero>3</numero>
<fpage>160</fpage>
<lpage>175</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-03902019000300160&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-03902019000300160&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-03902019000300160&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: La atrofia muscular espinal y bulbar es una enfermedad neurológica caracterizada por degeneración gradual de la motoneurona inferior, que resulta en debilidad muscular, atrofia y fasciculaciones. Es una entidad de etiología genética con mecanismo de herencia ligado al cromosoma X recesivo, por lo que afecta a varones, en la que se produce una expansión del triplete CAGn en el gen del receptor de andrógenos. Se manifiesta por signos de insensibilidad a los andrógenos (ginecomastia e infertilidad). A partir de los 20-30 años, aproximadamente, comienzan los signos de afectación de la motoneurona inferior a nivel espinal con calambres y temblor de acción y posteriormente debilidad muscular. En la evolución se evidencia compromiso bulbar. Se presenta el caso clínico-genealógico de un varón de 32 años con temblores en quien se confirma molecularmente la enfermedad de Kennedy. Este es el primer caso, hasta nuestro conocimiento, reportado en Uruguay. Se destaca la importancia de plantear dicha afección en un paciente joven con &#8220;temblores&#8221; cuando aún no es ostensible la debilidad muscular. La historia familiar es de capital importancia. La presencia de fasciculaciones en el estudio eléctrico a nivel perioral es muy sugestiva de esta patología. La confirmación molecular es importante para el asesoramiento genético.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary: Spinal and bulbar muscular atrophy (SBMA) is a neurological disease characterized by the progressive degeneration of the inferior motor neurones, what results in muscle weakness, atrophy and fasciculations. It possesses a genetic etiology with X-linked recessive inheritance mode, and thus affects men. There is an abnormal expansion of the CAG polyglutamine encoding repeat within the androgen receptor gene. It is noticed by signs of androgen insentistivity (gynecomastia and infertility). At 20-30 years old approximately signs of compromise of the lower motor neurones in the spine are seen in cramps and action tremor followed by muscle weakness, evidencing bulbar involvement in the evolution. The study presents the ciínical-genealogical case of a 32 year-old male with tremor, whose Kennedy disease was confirmed with molecules. This is the first case reported in Uruguay as far as we know. The importance of considering this condition is pointed out in a young patient with &#8220;tremor&#8221; when muscle weakness is not evident yet. Family history is key. The presence of fasciculation in the electrical study strongly suggests this condition. Molecular confirmation is important for genetic advice purposes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: A atrofia muscular bulbo-espinal (BSMA) é uma doença neurológica caracterizada pela degeneração gradual do neurônio motor inferior causando fraqueza muscular, atrofia e fasciculações. É uma entidade de etiologia genética com mecanismo de herança ligada ao cromossoma X recessivo, afetando por isso a indivíduos do sexo masculino, nos quais se observa a expansão do triplete CAGn no gene do Receptor de Andrógenos (RA). Manifesta-se pela ausência de sensibilidade aos andrógenos (ginecomastia e infertilidade); a partir dos 20-30 anos aproximadamente começam a manifestar-se os sinais de afetação do neurônio motor inferior na região espinal com câimbras e tremor de ação e posteriormente debilidade muscular. Em sua evolução observa-se compromisso bulbar. Apresenta-se o caso clínico - genealógico de um indivíduo de sexo masculino de 32 anos com tremores, no qual foi realizado diagnóstico molecular de doença de Kennedy. Este é o primeiro caso informado no Uruguai, que seja de nosso conhecimento. Destaca-se a importância da suspeita desta afecção em um paciente jovem com &#8220;tremores&#8221; mesmo quando a debilidade muscular ainda não é ostensível. A história familiar é fundamental. A presença de fasciculações no estudo elétrico na região perioral é muito sugestiva desta patologia. A confirmação molecular é importante para o assessoramento genético.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Atrofia bulboespinal ligada al X]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Kennedy]]></kwd>
<kwd lng="es"><![CDATA[Informes de casos]]></kwd>
<kwd lng="en"><![CDATA[Bulbo-spinal atrophy]]></kwd>
<kwd lng="en"><![CDATA[X-linked]]></kwd>
<kwd lng="en"><![CDATA[Kennedy disease]]></kwd>
<kwd lng="en"><![CDATA[Case reports]]></kwd>
<kwd lng="pt"><![CDATA[Atrofia bulboespinal ligada ao X]]></kwd>
<kwd lng="pt"><![CDATA[Doença de Kennedy]]></kwd>
<kwd lng="pt"><![CDATA[Relatos de casos]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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