View in EDS HTML Full Text PDF Full Text

Enfermedades neuromusculares en pediatría con tratamientos específicos.

Saved in:
Bibliographic Details
Title: Enfermedades neuromusculares en pediatría con tratamientos específicos.
Alternate Title: Neuromuscular diseases in pediatrics with specific treat ments.
Authors: Nascimento, Andrés1 (AUTHOR) andres.nascimento@sjd.es, Ortez, Carlos1 (AUTHOR), Expósito, Jessica1 (AUTHOR), Carrera, Laura1 (AUTHOR), Cerezo, Silvia1 (AUTHOR), Lotz, Stephanie1 (AUTHOR), Zschaeck, Irene1 (AUTHOR), Lujan, Agustín1 (AUTHOR), Gatnau, Chiara1 (AUTHOR), Estévez, Berta1 (AUTHOR), Tizzano, Eduardo1 (AUTHOR), Natera de Benito, Daniel1 (AUTHOR)
Source: Medicina (Buenos Aires). 2025 Supplement 4, Vol. 85, p34-40. 7p.
Subjects: NEUROMUSCULAR diseases, SPINAL muscular atrophy, MUSCULAR dystrophy, PEDIATRICS, GENETIC disorder diagnosis, MITOCHONDRIAL pathology, MUSCLE diseases, LYSOSOMAL storage diseases
Abstract (English): This article provides an overview of neuromuscular diseases in childhood for pediatric neurologists, high lighting conditions with available specific treatments. It focuses on spinal muscular atrophy (SMA), where disease-modifying therapies have changed the natural history of the disease. Congenital myasthenic syndromes are addressed next, emphasizing the importance of genetic diagnosis for tailored therapies. In the field of muscular dystrophies, we will highlight advances in Duchenne. Mitochondrial myopathies are also reviewed, with mention of treatments such nucleoside for timidine kinase deficiency. Pompe disease is highlighted due to the availability of enzyme replacement therapy and finally, the article discusses treatable metabolic myopa thies, such as riboflavin transporter deficiencies. This review aims to promote early diagnosis and personalized management in neuromuscular disorders. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Este artículo ofrece una visión general de las en fermedades neuromusculares en la infancia, dirigido a neurólogos pediátricos, con énfasis en aquellas que disponen de tratamientos específicos. Se destaca la atrofia muscular espinal (AME), donde terapias modi ficadoras de la enfermedad han cambiado de forma significativa la historia natural. A continuación, se abordan los síndromes miasténicos congénitos, su brayando la importancia del diagnóstico genético para elegir el tratamiento. En el campo de las distrofias musculares, se comentan los avances en la distrofia muscular de Duchenne. Las miopatías mitocondriales también se revisan, mencionando el uso de nucleósidos en el tratamiento del déficit de timidina quinasa 2. La enfermedad de Pompe se aborda por la disponibilidad de terapia de reemplazo enzimático y finalmente se comentan algunas miopatías metabólicas tratables, como las deficiencias del transportador de riboflavina. Esta revisión tiene como objetivo fomentar el diagnós tico precoz y el manejo personalizado de los trastornos neuromusculares, destacando el impacto de las terapias dirigidas en la mejora del pronóstico de estas enferme dades en la edad pediátrica. [ABSTRACT FROM AUTHOR]
Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: MedicLatina
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: lth
DbLabel: MedicLatina
An: 189345682
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Enfermedades neuromusculares en pediatría con tratamientos específicos.
– Name: TitleAlt
  Label: Alternate Title
  Group: TiAlt
  Data: Neuromuscular diseases in pediatrics with specific treat ments.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Nascimento%2C+Andrés%22">Nascimento, Andrés</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> andres.nascimento@sjd.es</i><br /><searchLink fieldCode="AR" term="%22Ortez%2C+Carlos%22">Ortez, Carlos</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Expósito%2C+Jessica%22">Expósito, Jessica</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Carrera%2C+Laura%22">Carrera, Laura</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cerezo%2C+Silvia%22">Cerezo, Silvia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lotz%2C+Stephanie%22">Lotz, Stephanie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zschaeck%2C+Irene%22">Zschaeck, Irene</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lujan%2C+Agustín%22">Lujan, Agustín</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gatnau%2C+Chiara%22">Gatnau, Chiara</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Estévez%2C+Berta%22">Estévez, Berta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tizzano%2C+Eduardo%22">Tizzano, Eduardo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Natera+de+Benito%2C+Daniel%22">Natera de Benito, Daniel</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Medicina+%28Buenos+Aires%29%22">Medicina (Buenos Aires)</searchLink>. 2025 Supplement 4, Vol. 85, p34-40. 7p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22NEUROMUSCULAR+diseases%22">NEUROMUSCULAR diseases</searchLink><br /><searchLink fieldCode="DE" term="%22SPINAL+muscular+atrophy%22">SPINAL muscular atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22MUSCULAR+dystrophy%22">MUSCULAR dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22PEDIATRICS%22">PEDIATRICS</searchLink><br /><searchLink fieldCode="DE" term="%22GENETIC+disorder+diagnosis%22">GENETIC disorder diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22MITOCHONDRIAL+pathology%22">MITOCHONDRIAL pathology</searchLink><br /><searchLink fieldCode="DE" term="%22MUSCLE+diseases%22">MUSCLE diseases</searchLink><br /><searchLink fieldCode="DE" term="%22LYSOSOMAL+storage+diseases%22">LYSOSOMAL storage diseases</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: This article provides an overview of neuromuscular diseases in childhood for pediatric neurologists, high lighting conditions with available specific treatments. It focuses on spinal muscular atrophy (SMA), where disease-modifying therapies have changed the natural history of the disease. Congenital myasthenic syndromes are addressed next, emphasizing the importance of genetic diagnosis for tailored therapies. In the field of muscular dystrophies, we will highlight advances in Duchenne. Mitochondrial myopathies are also reviewed, with mention of treatments such nucleoside for timidine kinase deficiency. Pompe disease is highlighted due to the availability of enzyme replacement therapy and finally, the article discusses treatable metabolic myopa thies, such as riboflavin transporter deficiencies. This review aims to promote early diagnosis and personalized management in neuromuscular disorders. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: Este artículo ofrece una visión general de las en fermedades neuromusculares en la infancia, dirigido a neurólogos pediátricos, con énfasis en aquellas que disponen de tratamientos específicos. Se destaca la atrofia muscular espinal (AME), donde terapias modi ficadoras de la enfermedad han cambiado de forma significativa la historia natural. A continuación, se abordan los síndromes miasténicos congénitos, su brayando la importancia del diagnóstico genético para elegir el tratamiento. En el campo de las distrofias musculares, se comentan los avances en la distrofia muscular de Duchenne. Las miopatías mitocondriales también se revisan, mencionando el uso de nucleósidos en el tratamiento del déficit de timidina quinasa 2. La enfermedad de Pompe se aborda por la disponibilidad de terapia de reemplazo enzimático y finalmente se comentan algunas miopatías metabólicas tratables, como las deficiencias del transportador de riboflavina. Esta revisión tiene como objetivo fomentar el diagnós tico precoz y el manejo personalizado de los trastornos neuromusculares, destacando el impacto de las terapias dirigidas en la mejora del pronóstico de estas enferme dades en la edad pediátrica. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=lth&AN=189345682
RecordInfo BibRecord:
  BibEntity:
    Languages:
      – Code: spa
        Text: Spanish
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 34
    Subjects:
      – SubjectFull: NEUROMUSCULAR diseases
        Type: general
      – SubjectFull: SPINAL muscular atrophy
        Type: general
      – SubjectFull: MUSCULAR dystrophy
        Type: general
      – SubjectFull: PEDIATRICS
        Type: general
      – SubjectFull: GENETIC disorder diagnosis
        Type: general
      – SubjectFull: MITOCHONDRIAL pathology
        Type: general
      – SubjectFull: MUSCLE diseases
        Type: general
      – SubjectFull: LYSOSOMAL storage diseases
        Type: general
    Titles:
      – TitleFull: Enfermedades neuromusculares en pediatría con tratamientos específicos.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Nascimento, Andrés
      – PersonEntity:
          Name:
            NameFull: Ortez, Carlos
      – PersonEntity:
          Name:
            NameFull: Expósito, Jessica
      – PersonEntity:
          Name:
            NameFull: Carrera, Laura
      – PersonEntity:
          Name:
            NameFull: Cerezo, Silvia
      – PersonEntity:
          Name:
            NameFull: Lotz, Stephanie
      – PersonEntity:
          Name:
            NameFull: Zschaeck, Irene
      – PersonEntity:
          Name:
            NameFull: Lujan, Agustín
      – PersonEntity:
          Name:
            NameFull: Gatnau, Chiara
      – PersonEntity:
          Name:
            NameFull: Estévez, Berta
      – PersonEntity:
          Name:
            NameFull: Tizzano, Eduardo
      – PersonEntity:
          Name:
            NameFull: Natera de Benito, Daniel
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 07
              Text: 2025 Supplement 4
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 00257680
          Numbering:
            – Type: volume
              Value: 85
          Titles:
            – TitleFull: Medicina (Buenos Aires)
              Type: main
ResultId 1