Enfermedades neuromusculares en pediatría con tratamientos específicos.
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| Title: | Enfermedades neuromusculares en pediatría con tratamientos específicos. |
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| 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 |
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