A brief view on the role of genetic counseling in neuromuscular disease

Background and Aim : By developing genetic diagnoses, they are becoming a routine in the medical practice of neuromuscular diseases, so this diagnosis help for handling carefully genetic counseling (GC) on relatives and family members.Methods : This exploratory, retrospective, observational study used the information described in the GC medical record.Results : Most of the clients were women especially between 20 to 40, in other words, A high proportion of clients were motivated to undergo GC due to pregnancy and/or a desire to bear a child, but in some cases there are limited institutions in which a prenatal diagnosis is possible, and the possibility that cases are gathered in one of only a few facilities should be taken into consideration. Most of the clients knew the genetic risk and were seeking GC when encounter a life event and had experienced psychosocial changes, but in some cases, patients don t pay attention to having genetic counsiling. This effect may be due to the type of event and the level of understanding of genetic risk by each individual.Conclusion : Many clients were motivated to undergo GC when they encounter to a life event. Because of the diverse requirements of each client, neurologists should be equipped with the standard knowledge of clinical genetics and neurological diseases, In the other hand depending on the client, the type and the level of recognition of genetic risk will differ, so the clinical geneticists should completely understand the present situation of the client and provide appropriate treatment.

کلیدواژه ها:

Genetic counseling ، GC ، Neuromuscular disease ، Genetic risk