Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system

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Duchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually hav...

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Detalles Bibliográficos
Autores: Bazalar-Montoya, Jeny, Illanes-Manrique, Maryenela, Inca-Martinez, Miguel, Marca, Victoria, Huaman-Dianderas, Francia, Guevara-Fujita, Maria Luisa, Fujita, Ricardo, Cornejo-Olivas, Mario
Formato: artículo
Fecha de Publicación:2021
Institución:Universidad Peruana Cayetano Heredia
Repositorio:Revistas - Universidad Peruana Cayetano Heredia
Lenguaje:español
OAI Identifier:oai:revistas.upch.edu.pe:article/3893
Enlace del recurso:https://revistas.upch.edu.pe/index.php/RNP/article/view/3893
Nivel de acceso:acceso abierto
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spelling Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare systemAsesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del PerúBazalar-Montoya, JenyIllanes-Manrique, MaryenelaInca-Martinez, MiguelMarca, VictoriaHuaman-Dianderas, FranciaGuevara-Fujita, Maria LuisaFujita, RicardoCornejo-Olivas, MarioDuchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually having children with the disease. We proposed her to get involved in a pilot program for carrier-status diagnosis and genetic counseling. This case illustrates the importance of a genetic counseling program for diagnosis of asymptomatic carriers in neurogenetic diseases, particularly in regions with low-resource settings. We discussed successes and misunderstandings faced throughout the process, supporting policies for present and future challenges from this and similar kinds of diagnoses.La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta para orientación e información sobre riesgos inherentes a una eventual planificación familiar. Le propusimos participar en un programa piloto de asesoramiento genético para determinar su estado de portador o no de la variante causal de DMD en la familia. Esta primera experiencia ilustra la importancia de tener un programa de asesoramiento genético para el diagnóstico de portadores asintomáticos de enfermedades neurogenéticas en regiones con bajos recursos. Se incluyen reflexiones y comentarios sobre aspectos positivos y retos presentados durante el proceso, las políticas de apoyo presente y futuro para el afronte de los complejos problemas planteados por éste y similares diagnósticos.Universidad Peruana Cayetano Heredia2021-02-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://revistas.upch.edu.pe/index.php/RNP/article/view/389310.20453/rnp.v83i4.3893Revista de Neuro-Psiquiatria; Vol. 83 No. 4 (2020): October -December; 278-283Revista de Neuro-Psiquiatría; Vol. 83 Núm. 4 (2020): Octubre - Diciembre; 278-283Revista de Neuro-Psiquiatria; v. 83 n. 4 (2020): Octubre - Diciembre; 278-2831609-73940034-8597reponame:Revistas - Universidad Peruana Cayetano Herediainstname:Universidad Peruana Cayetano Herediainstacron:UPCHspahttps://revistas.upch.edu.pe/index.php/RNP/article/view/3893/4412info:eu-repo/semantics/openAccessoai:revistas.upch.edu.pe:article/38932021-02-02T21:08:30Z
dc.title.none.fl_str_mv Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú
title Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
spellingShingle Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
Bazalar-Montoya, Jeny
title_short Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
title_full Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
title_fullStr Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
title_full_unstemmed Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
title_sort Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
dc.creator.none.fl_str_mv Bazalar-Montoya, Jeny
Illanes-Manrique, Maryenela
Inca-Martinez, Miguel
Marca, Victoria
Huaman-Dianderas, Francia
Guevara-Fujita, Maria Luisa
Fujita, Ricardo
Cornejo-Olivas, Mario
author Bazalar-Montoya, Jeny
author_facet Bazalar-Montoya, Jeny
Illanes-Manrique, Maryenela
Inca-Martinez, Miguel
Marca, Victoria
Huaman-Dianderas, Francia
Guevara-Fujita, Maria Luisa
Fujita, Ricardo
Cornejo-Olivas, Mario
author_role author
author2 Illanes-Manrique, Maryenela
Inca-Martinez, Miguel
Marca, Victoria
Huaman-Dianderas, Francia
Guevara-Fujita, Maria Luisa
Fujita, Ricardo
Cornejo-Olivas, Mario
author2_role author
author
author
author
author
author
author
description Duchenne muscular dystrophy (DMD) is a rapidly progressive dystrophinopathy with X-linked inheritance. This report describes a woman with a family history of male relatives affected by DMD, as she sought out genetic counseling about her concerns related to family planning and risks of eventually having children with the disease. We proposed her to get involved in a pilot program for carrier-status diagnosis and genetic counseling. This case illustrates the importance of a genetic counseling program for diagnosis of asymptomatic carriers in neurogenetic diseases, particularly in regions with low-resource settings. We discussed successes and misunderstandings faced throughout the process, supporting policies for present and future challenges from this and similar kinds of diagnoses.
publishDate 2021
dc.date.none.fl_str_mv 2021-02-02
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://revistas.upch.edu.pe/index.php/RNP/article/view/3893
10.20453/rnp.v83i4.3893
url https://revistas.upch.edu.pe/index.php/RNP/article/view/3893
identifier_str_mv 10.20453/rnp.v83i4.3893
dc.language.none.fl_str_mv spa
language spa
dc.relation.none.fl_str_mv https://revistas.upch.edu.pe/index.php/RNP/article/view/3893/4412
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidad Peruana Cayetano Heredia
publisher.none.fl_str_mv Universidad Peruana Cayetano Heredia
dc.source.none.fl_str_mv Revista de Neuro-Psiquiatria; Vol. 83 No. 4 (2020): October -December; 278-283
Revista de Neuro-Psiquiatría; Vol. 83 Núm. 4 (2020): Octubre - Diciembre; 278-283
Revista de Neuro-Psiquiatria; v. 83 n. 4 (2020): Octubre - Diciembre; 278-283
1609-7394
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instname:Universidad Peruana Cayetano Heredia
instacron:UPCH
instname_str Universidad Peruana Cayetano Heredia
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reponame_str Revistas - Universidad Peruana Cayetano Heredia
collection Revistas - Universidad Peruana Cayetano Heredia
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Genetic counseling to a DMD asymptomatic carrier: First case report in the Peruvian public healthcare system
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