<?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>1561-3194</journal-id>
<journal-title><![CDATA[Revista de Ciencias Médicas de Pinar del Río]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Ciencias Médicas]]></abbrev-journal-title>
<issn>1561-3194</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-31942021000400011</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Delineación epidemiológica y fenotípica de la distrofia miotónica de Steinert]]></article-title>
<article-title xml:lang="en"><![CDATA[Epidemiologic and phenotypic delineation of Steinert&#8217;s myotonic dystrophy]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Licourt Otero]]></surname>
<given-names><![CDATA[Deysi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Candelaria Gómez]]></surname>
<given-names><![CDATA[Belkys]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[PérezMartín]]></surname>
<given-names><![CDATA[Martha María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández Triguero]]></surname>
<given-names><![CDATA[Yanet]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sainz Padrón]]></surname>
<given-names><![CDATA[Laisi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz Hernández]]></surname>
<given-names><![CDATA[Ilena Aurora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Pinar del Río Departamento Provincial de Genética Médica ]]></institution>
<addr-line><![CDATA[Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de Pinar del Río Policlínico Universitario Augusto Turcios Lima ]]></institution>
<addr-line><![CDATA[Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Ciencias Médicas de Pinar del Río. Policlínico Universitario Pedro Borras Astorga ]]></institution>
<addr-line><![CDATA[La Palma. Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Ciencias Médicas de Pinar del Río Policlínico Universitario 1ero de enero ]]></institution>
<addr-line><![CDATA[Consolación del Sur. Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>25</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942021000400011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942021000400011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942021000400011&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: la distrofia miotónica de Steinert es una enfermedad neuromuscular hereditaria, cuya prevalencia global es 1/8000. Tiene expresividad clínica muy variable. Objetivo: delinear las características epidemiológicas y fenotípicas en la distrofia miotónica de Steinert.  Métodos:  se realizó una investigación descriptiva, en Pinar del Río, desde el mes de enero del año 2019 hasta marzo del 2021. Se buscaron en bases de datos de Genética Clínica, los individuos con diagnóstico confirmado, y a partir de estos se confeccionaron las genealogías. Se realizó una pesquisa clínica activa para todos los miembros consanguíneos. Se usaron como instrumentos, la historia clínica genética y una planilla con datos del examen clínico.  Resultados: el 79,3 % de los casos se diagnosticaron después del estudio de las genealogías, en estas fueron identificadas 11 familias con 87 miembros. Se registró prevalencias de 6 y 4,1 x 10 000 habitantes en los municipios Minas de Matahambre y Viñales respectivamente, según el lugar natural de las personas, las cuales disminuyeron con la migración hacia el municipio Pinar del Río. Existe una correlación entre la edad de inicio y la del diagnóstico de la enfermedad. Entre las formas clínicas y el tipo de herencia no se encontraron diferencias significativas X2= 12,58 p=0,127220653. Fenotípicamente la ptosis palpebral y la debilidad muscular están presentes en el 89,6 % y el 82,7 %.  Conclusiones: la delineación epidemiológica y fenotípica, mediante la pesquisa activa en las familias, permite el seguimiento y conductas individualizadas que redundan en mayor satisfacción y calidad de vida.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Steinert&#8217;s myotonic dystrophy is a neuromuscular hereditary disease, which global prevalence is 1/8000. It has a very variable clinical expression.  Objective:  to delineate the epidemiologic and phenotypic characteristics of Steinert&#8217;s myotonic dystrophy.  Methods: a descriptive research was conducted in Pinar del Rio from January 2019 to March 2021. The databases of Clinical Genetics were reviewed, making the genealogies of the individuals with a confirmed diagnosis; an active clinical survey was carried out for all of the blood relative members. Clinical-genetic history and a form including the data of the clinical examination were used as instruments.  Results:  the 79,3 % of the cases were diagnosed after the study of their genealogies, where 11 families with 87 members were identified. The prevalence reached 6 and 4,1 x 10 000 inhabitants in Minas de Matahambre and Viñales municipalities respectively and according to the place of birth of these individuals, which have decreased due to the immigration to Pinar del Rio municipality. Between the clinical forms and the type of inheritance, no significant differences were found X2= 12,58 p=0,127220653. Palpebral ptosis and muscular weakness are phenotypically present in 89,6 % and 82,7 % of the individuals.  Conclusions:  the epidemiologic and phenotypic delineation during the active survey in families allows carrying out the follow-up and to establish individualized actions which will result in greater satisfaction and quality of life.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[DISTROFIA MIOTÓNICA]]></kwd>
<kwd lng="es"><![CDATA[PROTEINA QUINASA]]></kwd>
<kwd lng="es"><![CDATA[FENOTIPO]]></kwd>
<kwd lng="es"><![CDATA[EPIDEMILOGÍA]]></kwd>
<kwd lng="es"><![CDATA[ENFERMEDAD NEUROMUSCULAR]]></kwd>
<kwd lng="en"><![CDATA[MYOTONIC DYSTROPHY]]></kwd>
<kwd lng="en"><![CDATA[EIF-2 KINASE]]></kwd>
<kwd lng="en"><![CDATA[PHENOTYPE]]></kwd>
<kwd lng="en"><![CDATA[EPIDEMIOLOGY]]></kwd>
<kwd lng="en"><![CDATA[NEUROMUSCULAR DISEASES]]></kwd>
</kwd-group>
</article-meta>
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