Atrofia muscular espinal: aspectos clínicos, genéticos y alternativas terapéuticas.
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| Title: | Atrofia muscular espinal: aspectos clínicos, genéticos y alternativas terapéuticas. |
|---|---|
| Alternate Title: | Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives. |
| Authors: | González-Morales, Itzel Jacqueline1, Olivera-Bernal, Grecia Cecilia1, León-González, Daniela Alicia1, Rosas-Vargas, Haydeé1 hayrov@gmail.com |
| Source: | Revista Medica del IMSS. may/jun2026, Vol. 64 Issue 3, p1-8. 8p. |
| Subjects: | SPINAL muscular atrophy, THERAPEUTICS, DRUGS, NEUROMUSCULAR diseases, GENES, GENETIC disorder diagnosis, GENE therapy |
| Abstract (English): | Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by a mutation in the SMN1 gene, located on chromosome 5q13. It is characterized primarily by neuronal degeneration due to a deficiency in producing full-length survival motor neuron protein (FL-SMN), which results in progressive muscle weakness with complications such as scoliosis, paralysis, and even death. This article reviews the clinical and genetic aspects of the disease, its diagnosis and classification, as well as therapeutic alternatives. In this context, it highlights the role of the molecular determination of the causal genetic variant and the copy number of the homologous SMN2 gene as the primary modifiers of the course of the disease, both for diagnosis and classification, as well as for therapeutic decision making. Recently, therapies focused on modifying the natural history of SMA by increasing FL-SMN protein production have been developed. Currently, 3 treatments are available: Spinraza (nusinersen), Zolgensma (onasemnogene abeparvovec), and Evrysdi (risdiplam). Studies performed with these drugs to confirm their safety and efficacy show favorable results; however, early diagnosis is decisive for the success of any of these therapeutic alternatives. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La atrofia muscular espinal (AME) es un trastorno neuromuscular causado por una mutación en el gen SMN1, localizado en el cromosoma 5q13. Se caracteriza fundamentalmente por una degeneración neuronal por deficiencia en la producción de la proteína de supervivencia de las neuronas motoras de longitud completa (FL-SMN), lo que ocasiona debilidad muscular progresiva con complicaciones como escoliosis, parálisis e incluso la muerte. En este artículo se revisan los aspectos clínicos y genéticos de la enfermedad, su diagnóstico y clasificación, así como las alternativas terapéuticas. En este contexto, resalta el papel que tiene la determinación molecular de la variante genética causal, así como del número de copias del gen homólogo SMN2 como principal modificador del curso de la enfermedad, tanto para el diagnóstico y la clasificación, como para la toma de decisiones terapéuticas. Recientemente, se han desarrollado terapias enfocadas en modificar la historia natural de la AME mediante el aumento de la producción de la proteína FL-SMN. Actualmente se encuentran disponibles 3 tratamientos: Spinraza (nusinersen), Zolgensma (onasemnogén abeparvovec) y Evrysdi (risdiplam). Los estudios realizados con estos fármacos para confirmar su seguridad y eficacia muestran resultados favorables; no obstante, un diagnóstico temprano es decisivo para el éxito de cualquiera de estas alternativas terapéuticas. [ABSTRACT FROM AUTHOR] |
| Copyright of Revista Medica del IMSS is the property of Direccion de Prestaciones Medicas - IMSS 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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| Items | – Name: Title Label: Title Group: Ti Data: Atrofia muscular espinal: aspectos clínicos, genéticos y alternativas terapéuticas. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22González-Morales%2C+Itzel+Jacqueline%22">González-Morales, Itzel Jacqueline</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Olivera-Bernal%2C+Grecia+Cecilia%22">Olivera-Bernal, Grecia Cecilia</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22León-González%2C+Daniela+Alicia%22">León-González, Daniela Alicia</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Rosas-Vargas%2C+Haydeé%22">Rosas-Vargas, Haydeé</searchLink><relatesTo>1</relatesTo><i> hayrov@gmail.com</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Revista+Medica+del+IMSS%22">Revista Medica del IMSS</searchLink>. may/jun2026, Vol. 64 Issue 3, p1-8. 8p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22SPINAL+muscular+atrophy%22">SPINAL muscular atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22THERAPEUTICS%22">THERAPEUTICS</searchLink><br /><searchLink fieldCode="DE" term="%22DRUGS%22">DRUGS</searchLink><br /><searchLink fieldCode="DE" term="%22NEUROMUSCULAR+diseases%22">NEUROMUSCULAR diseases</searchLink><br /><searchLink fieldCode="DE" term="%22GENES%22">GENES</searchLink><br /><searchLink fieldCode="DE" term="%22GENETIC+disorder+diagnosis%22">GENETIC disorder diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22GENE+therapy%22">GENE therapy</searchLink> – Name: Abstract Label: Abstract (English) Group: Ab Data: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by a mutation in the SMN1 gene, located on chromosome 5q13. It is characterized primarily by neuronal degeneration due to a deficiency in producing full-length survival motor neuron protein (FL-SMN), which results in progressive muscle weakness with complications such as scoliosis, paralysis, and even death. This article reviews the clinical and genetic aspects of the disease, its diagnosis and classification, as well as therapeutic alternatives. In this context, it highlights the role of the molecular determination of the causal genetic variant and the copy number of the homologous SMN2 gene as the primary modifiers of the course of the disease, both for diagnosis and classification, as well as for therapeutic decision making. Recently, therapies focused on modifying the natural history of SMA by increasing FL-SMN protein production have been developed. Currently, 3 treatments are available: Spinraza (nusinersen), Zolgensma (onasemnogene abeparvovec), and Evrysdi (risdiplam). Studies performed with these drugs to confirm their safety and efficacy show favorable results; however, early diagnosis is decisive for the success of any of these therapeutic alternatives. [ABSTRACT FROM AUTHOR] – Name: Abstract Label: Abstract (Spanish) Group: Ab Data: La atrofia muscular espinal (AME) es un trastorno neuromuscular causado por una mutación en el gen SMN1, localizado en el cromosoma 5q13. Se caracteriza fundamentalmente por una degeneración neuronal por deficiencia en la producción de la proteína de supervivencia de las neuronas motoras de longitud completa (FL-SMN), lo que ocasiona debilidad muscular progresiva con complicaciones como escoliosis, parálisis e incluso la muerte. En este artículo se revisan los aspectos clínicos y genéticos de la enfermedad, su diagnóstico y clasificación, así como las alternativas terapéuticas. En este contexto, resalta el papel que tiene la determinación molecular de la variante genética causal, así como del número de copias del gen homólogo SMN2 como principal modificador del curso de la enfermedad, tanto para el diagnóstico y la clasificación, como para la toma de decisiones terapéuticas. Recientemente, se han desarrollado terapias enfocadas en modificar la historia natural de la AME mediante el aumento de la producción de la proteína FL-SMN. Actualmente se encuentran disponibles 3 tratamientos: Spinraza (nusinersen), Zolgensma (onasemnogén abeparvovec) y Evrysdi (risdiplam). Los estudios realizados con estos fármacos para confirmar su seguridad y eficacia muestran resultados favorables; no obstante, un diagnóstico temprano es decisivo para el éxito de cualquiera de estas alternativas terapéuticas. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Revista Medica del IMSS is the property of Direccion de Prestaciones Medicas - IMSS 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.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.5281/zenodo.18715398 Languages: – Code: spa Text: Spanish PhysicalDescription: Pagination: PageCount: 8 StartPage: 1 Subjects: – SubjectFull: SPINAL muscular atrophy Type: general – SubjectFull: THERAPEUTICS Type: general – SubjectFull: DRUGS Type: general – SubjectFull: NEUROMUSCULAR diseases Type: general – SubjectFull: GENES Type: general – SubjectFull: GENETIC disorder diagnosis Type: general – SubjectFull: GENE therapy Type: general Titles: – TitleFull: Atrofia muscular espinal: aspectos clínicos, genéticos y alternativas terapéuticas. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: González-Morales, Itzel Jacqueline – PersonEntity: Name: NameFull: Olivera-Bernal, Grecia Cecilia – PersonEntity: Name: NameFull: León-González, Daniela Alicia – PersonEntity: Name: NameFull: Rosas-Vargas, Haydeé IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: may/jun2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 04435117 Numbering: – Type: volume Value: 64 – Type: issue Value: 3 Titles: – TitleFull: Revista Medica del IMSS Type: main |
| ResultId | 1 |
