TY - JOUR
T1 - Genetic counseling to a DMD asymptomatic carrier
T2 - First case report in the Peruvian public healthcare system
AU - Bazalar-Montoya, Jeny
AU - Illanes-Manrique, Maryenela
AU - Inca-Martinez, Miguel
AU - Marca, Victoria
AU - Huaman-Dianderas, Francia
AU - Guevara-Fujita, Maria Luisa
AU - Fujita, Ricardo
AU - Cornejo-Olivas, Mario
N1 - Publisher Copyright:
© 2020 Peruvian University Cayetano Heredia, School of Medicine. All rights reserved.
PY - 2020/10
Y1 - 2020/10
N2 - 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.
AB - 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.
KW - Duchenne muscular dystrophy
KW - Genetic Carrier Screening
KW - Genetic carrier
KW - Genetic counseling
UR - http://www.scopus.com/inward/record.url?scp=85111497749&partnerID=8YFLogxK
U2 - 10.20453/RNP.V83I4.3893
DO - 10.20453/RNP.V83I4.3893
M3 - Artículo
AN - SCOPUS:85111497749
SN - 0034-8597
VL - 83
SP - 278
EP - 283
JO - Revista de Neuro-Psiquiatria
JF - Revista de Neuro-Psiquiatria
IS - 4
ER -
