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Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso.

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Title: Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso.
Alternate Title: Distrofia muscular emery-dreifuss tipo 1: um desafio diagnóstico sobre um caso.
Authors: Gutiérrez Vargas, María Camila1 camilagvargas06@gmail.com, Ostos Alfonso, Henry2, Ostos González, Paloma Catalina3
Source: Revista Salud Bosque. 2024, Vol. 14 Issue 2, p1-7. 7p.
Subjects: MUSCULAR atrophy, MUSCULAR dystrophy, NUCLEAR membranes, ACHILLES tendon, GENETIC variation
Abstract (English): Emery-Dreifuss muscular dystrophy is a rare degenerative myopathy with a global incidence of 1 in 100. 000, clinically characterized by the triad of contractures in the elbows, ankles, and rigid spine with cervical onset and muscular atrophy with humerofibular onset. Related genes so far related to nuclear envelope proteins such as EMD, LMNA, FHL1, (NE)nesprins-1/2, encoded by SYNE1 and SYNE2, and SUN1 and SUN2. The present case is a 17-year-old male patient with detection of the hemizygous EMD c.572G>A p.Trp191Ter gene variant of clinically pathogenic signifi- cance with Achilles tendon contracture without elbow contracture, decreased muscle strength, hyporeflexia and no cardiac alterations. This case contributes to the literature with information on the phenotype and genotype of one of the rare causes of muscular dystrophy with a high risk of sudden death. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): La distrofia muscular de Emery-Dreifuss es una miopatía degenerativa rara con una incidencia global de 1 en 100 000, caracterizada clínicamente por la triada de contracturas en codos, tobillos y columna rígida de inicio cervical y atrofia muscular de inicio humeroperoneal. Los genes relacionados hasta el momento se relacionan con las proteínas de la envoltura nuclear como EMD, LMNA, FHL1, (NE) nesprins-1/2, codificadas por SYNE1 y SYNE2, y SUN1 y SUN2. El presente caso es un paciente masculino de 17 años con detección de variante del gen EMD c.572G>A p.Trp191Ter, homocigoto de significado clínico patogénico con contractura en el tendón de Aquiles sin contractura en codos, disminución de la fuerza muscular, hiporreflexia y sin alteraciones cardiacas. Este caso aporta a la literatura información sobre el fenotipo y genotipo de una de las causas raras de distrofia muscular con alto riesgo de muerte súbita. [ABSTRACT FROM AUTHOR]
Abstract (Portuguese): A distrofia muscular de Emery Drefuss é uma miopatia degenerativa rara com incidência global de 1 em 100.000, caracterizada clinicamente pela tríade de contraturas nos cotovelos, tornozelos e coluna rígida com início cervical e atrofia muscular com início umerofibular. Genes relacionados até agora relacionados a proteínas do envelope nuclear, como EMD, LMNA e outros, são FHL1, (NE)nesprins-1/2, codificados por SYNE1 e SYNE2, e SUN1 e SUN2. Nosso caso é um paciente do sexo masculino de 17 anos com detecção da variante hemizigótica do gene EMD c.572G>A p.Trp191Ter de significado clinicamente patogênico com contratura do tendão de Aquiles sem contratura do cotovelo, diminuição da força muscular, hiporreflexia e sem anormalidades cardíacas. Este caso fornece informações para a literatura sobre o fenótipo e genótipo de uma das raras causas de distrofia muscular com alto risco de morte súbita. [ABSTRACT FROM AUTHOR]
Copyright of Revista Salud Bosque is the property of Universidad El Bosque 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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  Data: Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso.
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  Data: Distrofia muscular emery-dreifuss tipo 1: um desafio diagnóstico sobre um caso.
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  Data: <searchLink fieldCode="AR" term="%22Gutiérrez+Vargas%2C+María+Camila%22">Gutiérrez Vargas, María Camila</searchLink><relatesTo>1</relatesTo><i> camilagvargas06@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Ostos+Alfonso%2C+Henry%22">Ostos Alfonso, Henry</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Ostos+González%2C+Paloma+Catalina%22">Ostos González, Paloma Catalina</searchLink><relatesTo>3</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Revista+Salud+Bosque%22">Revista Salud Bosque</searchLink>. 2024, Vol. 14 Issue 2, p1-7. 7p.
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  Data: <searchLink fieldCode="DE" term="%22MUSCULAR+atrophy%22">MUSCULAR atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22MUSCULAR+dystrophy%22">MUSCULAR dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22NUCLEAR+membranes%22">NUCLEAR membranes</searchLink><br /><searchLink fieldCode="DE" term="%22ACHILLES+tendon%22">ACHILLES tendon</searchLink><br /><searchLink fieldCode="DE" term="%22GENETIC+variation%22">GENETIC variation</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Emery-Dreifuss muscular dystrophy is a rare degenerative myopathy with a global incidence of 1 in 100. 000, clinically characterized by the triad of contractures in the elbows, ankles, and rigid spine with cervical onset and muscular atrophy with humerofibular onset. Related genes so far related to nuclear envelope proteins such as EMD, LMNA, FHL1, (NE)nesprins-1/2, encoded by SYNE1 and SYNE2, and SUN1 and SUN2. The present case is a 17-year-old male patient with detection of the hemizygous EMD c.572G>A p.Trp191Ter gene variant of clinically pathogenic signifi- cance with Achilles tendon contracture without elbow contracture, decreased muscle strength, hyporeflexia and no cardiac alterations. This case contributes to the literature with information on the phenotype and genotype of one of the rare causes of muscular dystrophy with a high risk of sudden death. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: La distrofia muscular de Emery-Dreifuss es una miopatía degenerativa rara con una incidencia global de 1 en 100 000, caracterizada clínicamente por la triada de contracturas en codos, tobillos y columna rígida de inicio cervical y atrofia muscular de inicio humeroperoneal. Los genes relacionados hasta el momento se relacionan con las proteínas de la envoltura nuclear como EMD, LMNA, FHL1, (NE) nesprins-1/2, codificadas por SYNE1 y SYNE2, y SUN1 y SUN2. El presente caso es un paciente masculino de 17 años con detección de variante del gen EMD c.572G>A p.Trp191Ter, homocigoto de significado clínico patogénico con contractura en el tendón de Aquiles sin contractura en codos, disminución de la fuerza muscular, hiporreflexia y sin alteraciones cardiacas. Este caso aporta a la literatura información sobre el fenotipo y genotipo de una de las causas raras de distrofia muscular con alto riesgo de muerte súbita. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Portuguese)
  Group: Ab
  Data: A distrofia muscular de Emery Drefuss é uma miopatia degenerativa rara com incidência global de 1 em 100.000, caracterizada clinicamente pela tríade de contraturas nos cotovelos, tornozelos e coluna rígida com início cervical e atrofia muscular com início umerofibular. Genes relacionados até agora relacionados a proteínas do envelope nuclear, como EMD, LMNA e outros, são FHL1, (NE)nesprins-1/2, codificados por SYNE1 e SYNE2, e SUN1 e SUN2. Nosso caso é um paciente do sexo masculino de 17 anos com detecção da variante hemizigótica do gene EMD c.572G>A p.Trp191Ter de significado clinicamente patogênico com contratura do tendão de Aquiles sem contratura do cotovelo, diminuição da força muscular, hiporreflexia e sem anormalidades cardíacas. Este caso fornece informações para a literatura sobre o fenótipo e genótipo de uma das raras causas de distrofia muscular com alto risco de morte súbita. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Revista Salud Bosque is the property of Universidad El Bosque 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: 10.18270/rsb.4390
    Languages:
      – Code: spa
        Text: Spanish
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      Pagination:
        PageCount: 7
        StartPage: 1
    Subjects:
      – SubjectFull: MUSCULAR atrophy
        Type: general
      – SubjectFull: MUSCULAR dystrophy
        Type: general
      – SubjectFull: NUCLEAR membranes
        Type: general
      – SubjectFull: ACHILLES tendon
        Type: general
      – SubjectFull: GENETIC variation
        Type: general
    Titles:
      – TitleFull: Distrofia muscular de Emery-Dreifuss tipo 1: un desafío diagnóstico a propósito de un caso.
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            NameFull: Gutiérrez Vargas, María Camila
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            NameFull: Ostos Alfonso, Henry
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            NameFull: Ostos González, Paloma Catalina
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            – D: 01
              M: 07
              Text: 2024
              Type: published
              Y: 2024
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