<?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>2462-8522</journal-id>
<journal-title><![CDATA[Case reports]]></journal-title>
<abbrev-journal-title><![CDATA[Case reports]]></abbrev-journal-title>
<issn>2462-8522</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional de Colombia (Sede Bogotá), Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2462-85222019000200098</article-id>
<article-id pub-id-type="doi">10.15446/cr.v5n2.76711</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[FUNCTIONAL ASSESSMENT USING SHORT TESTS IN A PATIENT WITH POMPE DISEASE RECEIVING ENZYME REPLACEMENT THERAPY: CASE REPORT]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Cuenca]]></surname>
<given-names><![CDATA[Thomas]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Ruíz]]></surname>
<given-names><![CDATA[Jorge Arturo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz-Corredor]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Colombia Faculty of Medicine Department of Physical Medicine and Rehabilitation]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Colombia Faculty of Medicine Department of Physical Medicine and Rehabilitation]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro de Investigación en Fisiatría y Electro Diagnóstico  ]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>5</volume>
<numero>2</numero>
<fpage>98</fpage>
<lpage>104</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2462-85222019000200098&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2462-85222019000200098&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2462-85222019000200098&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme replacement therapy has shown to improve gross motor function and lung function in patients.  Case description: Female patient who presented chronic quadriparesis. She was diagnosed with Pompe disease, which required enzyme replacement therapy that helped improve the symptoms, which was evident with the performance of rapid functional evaluation tests.  Discussion: Enzyme replacement therapy in Pompe disease modifies the natural history of the disease. A brief review of the literature about the functional tests that can be used to assess a patient with this disorder is presented.  Conclusion: The 10-meter walk test, one-leg stance test, cervical flexion in supine position, five times sit to stand test, and coin rotation task are useful for clinical evaluation in patients with Pompe disease receiving enzyme replacement therapy.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción. La enfermedad de Pompe se caracteriza por una alteración de la enzima alfa glucosidasa ácida lisosomal que produce acumulación de glicógeno, principalmente en el músculo esquelético y cardiaco. Se presentan formas de inicio temprano y tardío, esta última de más difícil manejo dada la múltiple variedad de presentaciones. La terapia de reemplazo enzimático ha demostrado mejorar la función motora gruesa y pulmonar de los pacientes con esta patología.  Presentación del caso. Paciente femenino quien presentó cuadro crónico de cuadriparesia y a quien se le documentó enfermedad de Pompe, por lo que requirió terapia de reemplazo enzimático con mejoría franca de sintomatología, objetivizada con la realización de pruebas rápidas de evaluación funcional.  Discusión. La terapia de reemplazo enzimático en la enfermedad de Pompe modifica la historia natural de la enfermedad. Se realiza una breve revisión de la literatura acerca de las pruebas funcionales que pueden ser utilizadas dentro de la evaluación del paciente con este trastorno.  Conclusiones. La prueba de caminata de 10m, de equilibrio monopodal, de flexión cervical en supino, de levantarse-sentarse cinco veces y de la moneda resultan útiles para la evaluación clínica de los pacientes con enfermedad de Pompe en terapia de remplazo enzimático.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad del almacenamiento de glucógeno tipo II]]></kwd>
<kwd lng="es"><![CDATA[Terapia de reemplazo enzimático]]></kwd>
<kwd lng="es"><![CDATA[Recuperación de la función]]></kwd>
<kwd lng="es"><![CDATA[Diferencia mínima clínicamente importante]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades musculares]]></kwd>
<kwd lng="en"><![CDATA[Glycogen Storage Disease Type II]]></kwd>
<kwd lng="en"><![CDATA[Enzyme Replacement Therapy]]></kwd>
<kwd lng="en"><![CDATA[Recovery of Function]]></kwd>
<kwd lng="en"><![CDATA[Glycogen Storage Disease Type IIB]]></kwd>
<kwd lng="en"><![CDATA[Minimal Clinically Important Difference]]></kwd>
<kwd lng="en"><![CDATA[Muscle Disorders]]></kwd>
</kwd-group>
</article-meta>
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