Nuevas herramientas diagnósticas de biología molecular en enfermedades neuromusculares

Advances of modern molecular biology methodologies for the genetic study of patients with hereditary neuromuscular diseases (NMD), has resulted in a number of benefits for an increasing number of patients: accurate etiological diagnosis, shorter diagnosis times, proper genetic counseling, precise genotype-phenotype relationships that allow for adequate prognosis and treatment options, and the possibility to group cohorts of patients for their potential participation in specific clinical protocols and/or to receive personalized pharmacological treatments. In this article, we present a summary of the molecular biology studies used in patients affected by the most frequent forms of NMD. Our aim is to assist pediatric or adult neurologists to request the most appropriate genetic study when treating a patient with a potential NMD, and to critically analyze the corresponding results to offer appropriate therapeutic alternatives. The requested genetic study must provide the best diagnostic possibilities for the patient, in the shortest time and at the lowest possible cost, thus benefiting the patient and the health systems.