Duchenne muscular dystrophy
Genetic counseling for a couple with an adolescent son withDuchenne muscular dystrophy
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A methodology for genetic counseling to patients and/or relatives at risk with the diagnosis of Duchenne Muscular Dystrophy is proposed, based on a case selected from the registry of families of the Provincial Genetics Center. A bibliographic review was made on the most relevant aspects of the pathology we are dealing with, exposing the physiopathology, clinical, genetic and psychosocial characteristics that distinguish it. The methodology for genetic counseling was elaborated taking into account four essential elements: diagnosis, information, psychological support and follow-up. For this, we...
A methodology for genetic counseling to patients and/or relatives at risk with the diagnosis of Duchenne Muscular Dystrophy is proposed, based on a case selected from the registry of families of the Provincial Genetics Center. A bibliographic review was made on the most relevant aspects of the pathology we are dealing with, exposing the physiopathology, clinical, genetic and psychosocial characteristics that distinguish it. The methodology for genetic counseling was elaborated taking into account four essential elements: diagnosis, information, psychological support and follow-up. For this, we relied on the interview as a fundamental technique. An information sheet was designed for the patient and family members, in one of the genetic counseling sessions, with the purpose of achieving a better understanding of the information provided about the disease.
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