Asunto(s)
Cardiomiopatías/etiología , Distrofias Musculares , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiología , Arritmias Cardíacas/genética , Cardiomiopatías/diagnóstico , Cardiomiopatías/genética , Electrocardiografía , Humanos , Células Musculares/fisiología , Distrofias Musculares/complicaciones , Distrofias Musculares/congénito , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Distrofia Muscular de Cinturas/complicaciones , Distrofia Muscular de Cinturas/congénito , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/genética , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/congénito , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Emery-Dreifuss/complicaciones , Distrofia Muscular de Emery-Dreifuss/congénito , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Miotónica/complicaciones , Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genéticaRESUMEN
Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes has enabled more precise diagnosis of these disorders and the development of specific therapeutic approaches that target the genetic basis and pathophysiological pathways. Such translational research has led to the approval of two genetic therapies by the US Food and Drug Administration: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy, which are both antisense oligonucleotides that modify pre-mRNA splicing. In this Review we aim to discuss new genetic therapies and ongoing clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, and other less common childhood neuromuscular disorders.