<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492026000101201</article-id>
<article-id pub-id-type="doi">10.31134/ap.97.1.1</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia inicial en Uruguay]]></article-title>
<article-title xml:lang="en"><![CDATA[Nusinersen in the treatment of spinal muscular atrophy: first-time experience in Uruguay]]></article-title>
<article-title xml:lang="pt"><![CDATA[Nusinersen no tratamento da atrofia muscular espinhal: experiência inicial no Uruguai]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morón]]></surname>
<given-names><![CDATA[Aroldo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barros]]></surname>
<given-names><![CDATA[Graciela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mansilla]]></surname>
<given-names><![CDATA[Santiago]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Navarro]]></surname>
<given-names><![CDATA[Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruiz]]></surname>
<given-names><![CDATA[Victoria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Chaibun]]></surname>
<given-names><![CDATA[Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Medici]]></surname>
<given-names><![CDATA[Conrado]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR Facultad de Medicina Unidad Académica Neuropediatría. CHPR]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,ASSE CHPR Unidad Enfermedades Neuromusculares]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,UDELAR Facultad de Medicina Depto. Métodos Cuantitativos]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,UDELAR Facultad de Medicina Unidad Académica Neuropediatría. CHPR]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,UDELAR Facultad de Medicina Unidad Académica de Neuropediatría. CHPR]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<volume>97</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492026000101201&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492026000101201&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492026000101201&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  la atrofia muscular espinal (AME) 5q es una enfermedad genética que conlleva a una muerte precoz de motoneuronas del asta anterior, atrofia y debilidad muscular progresivas. En 2016, se aprobó el uso de nusinersen, que actúa sobre el gen SMN2 incrementando la cantidad de proteína funcionante. Uruguay inicia su uso en 2019.  Objetivos:  describir la evolución clínica y las características de un grupo de pacientes con AME que iniciaron el tratamiento con nusinersen.  Metodología:  estudio descriptivo, observacional, prospectivo, mediante recolección de datos de historia clínica. Se incluyeron 11 pacientes con diagnóstico de AME 5q. Dos niños AME tipo 1, nueve niños AME tipo 2. Edad de inicio de nusinersen en AME tipo 1 fue 10 y 17 meses. En AME tipo 2, en cinco niños se inició antes de los 6 años y en cuatro después de dicha edad. En el seguimiento se aplicaron escalas motoras validadas: CHOP INTEND y HINE en los niños con AME tipo 1, y HFSME y RULM en los AME tipo 2, evaluando la progresión motora frente a la historia natural de la enfermedad. En AME tipo 1 se observó mejoría de la función motora; en la mayoría de AME tipo 2 se observó mejoría o estabilización.  Conclusiones:  AME es una enfermedad rara, genética, con heterogeneidad de presentación clínica y respuesta al tratamiento. Los tratamientos modificadores de la enfermedad, como el nusinersen, sugieren resultados alentadores, con respuesta no lineal, observándose períodos de variabilidad y distribución heterogénea en los distintos grupos musculares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ Summary:  Introduction:  5q Spinal muscular atrophy (SMA) is a genetic disease that leads to early death of anterior horn motor neurons, resulting in progressive muscle atrophy and weakness. In 2016, the use of Nusinersen was approved; it acts on the SMN2 gene, increasing the amount of functional protein. In 2019, Uruguay began its use.  Objectives:  describe the clinical evolution and characteristics of a group of patients with SMA who started treatment with Nusinersen.  Metodology:  this is a descriptive, observational, prospective study, based on data collected from medical records. Eleven patients diagnosed with 5q SMA were included: two children with type 1 SMA and nine with type 2 SMA. The age at which Nusinersen was initiated in type 1 SMA was 10 and 17 months. In type 2 SMA, treatment began before age 6 in five children and after age 6 in four. Validated motor scales were used during follow-up: CHOP INTEND and HINE for type 1 SMA, and HFMSE and RULM for type 2 SMA, assessing motor progression compared to the natural history of the disease. In type 1 SMA, improvement in motor function was observed; in most cases of type 2 SMA, improvement or stabilization was noted.  Conclusions:  SMA is a rare, genetic disease with heterogeneous clinical presentation and treatment response. Disease-modifying therapies such as Nusinersen show encouraging results, with a non-linear response pattern and periods of variability and heterogeneous distribution across different muscle groups.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução:  a Atrofia Muscular Espinhal (AME) 5q é uma doença genética que acarreta a morte precoce de neurónios motores do corno anterior, resultando em atrofia e fraqueza muscular progressivas. Em 2016, foi aprovado o uso de Nusinersen, que atua sobre o gene SMN2, aumentando a quantidade de proteína funcional. O Uruguai iniciou seu uso em 2019.  Objetivos:  descrever a evolução clínica e as características de um grupo de pacientes com AME que iniciaram o tratamento com Nusinersen.  Metodologia:  estudo descritivo, observacional, prospetivo, mediante a recolha de dados de história clínica. Foram incluídos 11 pacientes com diagnóstico de AME 5q: duas crianças com AME tipo 1 e nove crianças com AME tipo 2. A idade de início do Nusinersen na AME tipo 1 foi de 10 e 17 meses. Na AME tipo 2, cinco crianças iniciaram antes dos 6 anos e quatro após essa idade. No seguimento, foram aplicadas escalas motoras validadas: CHOP INTEND e HINE nas crianças com AME tipo 1, e HFSME e RULM nas AME tipo 2, avaliando a progressão motora face à história natural da doença. Observou-se melhoria da função motora na AME tipo 1; na maioria dos pacientes com AME tipo 2 observou-se melhoria ou estabilização.  Conclusões:  a AME é uma doença rara, genética, com heterogeneidade de apresentação clínica e resposta ao tratamento. Os tratamentos modificadores da doença, como o Nusinersen, sugerem resultados promissores, com resposta não linear, observando-se períodos de variabilidade e distribuição heterogênea nos diferentes grupos musculares.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Atrofia Muscular Espinal]]></kwd>
<kwd lng="es"><![CDATA[Niño]]></kwd>
<kwd lng="en"><![CDATA[Spinal Muscular Atrophy]]></kwd>
<kwd lng="en"><![CDATA[Child]]></kwd>
<kwd lng="pt"><![CDATA[Atrofia Muscular espinal]]></kwd>
<kwd lng="pt"><![CDATA[Criança]]></kwd>
</kwd-group>
</article-meta>
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