<?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>S1561-31942020000600020</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Reporte de familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud]]></article-title>
<article-title xml:lang="en"><![CDATA[Report of families with Steinert´s Myotonic Dystrophy surveyed in Primary Health Care]]></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[González García]]></surname>
<given-names><![CDATA[Raúl]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Contreras Contreras]]></surname>
<given-names><![CDATA[Yazmin]]></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 Centro Provincial de Genética Médica ]]></institution>
<addr-line><![CDATA[Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<volume>24</volume>
<numero>6</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942020000600020&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942020000600020&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942020000600020&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 heredo familiar con patrón de transmisión autosómico dominante.  Objetivo:  describir familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud.  Presentación de familias:  se trata de una muestra de 126 miembros pertenecientes a dos familias, residentes en la provincia Pinar del Río, Cuba, en la que varios de sus miembros tenían diagnosticada la enfermedad. Se realizó un pesquisaje durante el año 2019, y entre enero y marzo del 2020, a cada miembro de ambas familias, se les completó las genealogías y evaluaron las características clínicas. Se trabajó con algunas variables relacionadas con las formas clínicas de la enfermedad según las generaciones.  Resultados: se presentaron mediante el árbol genealógico dos familias, con 40 y 86 miembros, de los municipios de Minas de Matahambre y Pinar del Río respectivamente. En el primer municipio se registraron nueve personas con la forma leve y clásica de la enfermedad, de estas más de la mitad no conocían su condición, 21 personas eran aparentemente sintomáticas. En el segundo municipio, 21 casos fueron evaluados con alguna forma clínica de la enfermedad, que con respecto al total de casos pesquisados representaron el 26,5 %.  Conclusiones:  es esencial la pesquisa a las familias con distrofia miotónica de Steinert, ya que existe una disociación de los signos clínicos y expresión variable de la enfermedad. Es la Atención Primaria de Salud el escenario que permite el diagnóstico precoz y manejo multidisciplinario.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: the dystrophy miotónica of Steinert. It is an illness I inherit family with pattern of transmission dominant autosómico.  Objective:  to describe families with Steinert´s Myotonic Dystrophy, surveyed in Primary Health Care.  Report of families:  it is about a sample of 126 members belonging to two families, in which several of their members had been diagnosed with the entity; both families are from Pinar del Río province, Cuba. A survey was conducted during 2019, and between January and March 2020, each member of both families had their genealogies completed and their clinical characteristics evaluated; working with some variables related to the clinical types of this entity according to the generations.  Results:  two families were presented through the genealogical tree, with 40 and 86 members from the municipalities of Minas de Matahambre and Pinar del Río municipalities respectively. In the first municipality, nine persons (9) were registered with the mild and classic type of the disease, of these more than 50 % did not know their condition, and 21 persons were apparently symptomatic. In the second municipality, 21 cases were evaluated some clinical characteristics of the disease, which with respect to the total number of cases surveyed represented 26,5 %.  Conclusions:  it is essential to study families with Steinert's Myotonic Dystrophy, since there is a dissociation of clinical signs and variable expression of the disease. It is the Primary Health Care the setting which allows early diagnosis and multidisciplinary management of this disease.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[DISTROFIA MIOTÓNICA]]></kwd>
<kwd lng="es"><![CDATA[ATENCIÓN PRIMARIA DE SALUD]]></kwd>
<kwd lng="en"><![CDATA[MYOTONIC DYSTROPHY]]></kwd>
<kwd lng="en"><![CDATA[PRIMARY HEALTH CARE]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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