La atrofia muscular espinal en el nuevo escenario terapéutico

Recently, there have been important therapeutic advances in spinal muscular atrophy (SMA) caused by alteration of the SMN1 gene, also known as SMA 5q due to its chromosomal location. Described in the XIX century and identified the causative gene in 1995, during these last decades the collaborative effort of researchers, health professionals and advocacy groups contributed to increase the knowledge of the genetics of the disease, key to develop advanced therapies. Results on clinical research and approval of antisense therapy with Nusinersen as the first specific treatment for the disease as well as gene therapy, with very promising results in patients, make no longer SMA being considered as an intractable disease. On the way to a possible cure or substantial change in the clinical course, it is important to support early diagnosis, the implementation of registries, multidisciplinary follow-up and the uniformity of standard of care in different specialties to optimize the efficacy of treatments. SMA is a clear example for other rare neuromuscular diseases of genetic origin demonstrating that the investigation of genetic causes can help to discover and develop effective therapies with important benefits for patients and their families.información del artículo