Achievements and problems in the diagnosis and treatment of neuromuscular diseases

Rapid progress in genetic research and the subsequent emergence of diverse gene therapy for hereditary neuromuscular diseases lead to the need to create specialized clinics or beds in neurological hospitals. The physicians in this area of medical practice are required to have deep knowledge of this extremely extensive group of diseases (more than 1,100 diseases) and, accordingly, a narrow specialization in the field of myology. An additional problem is the polysystemic nature of the neuromuscular diseases and the need for diagnostics and management by a team of different specialists (neurologists, geneticists, cardiologists, orthopedists, palliative medicine specialists, etc.), which is only possible in a multidisciplinary clinic. An outstanding achievement is the provision of gene therapy to all children with spinal muscular atrophy and a significant portion of patients with Duchenne muscular dystrophy in the Russian Federation, thanks to the “Circle of Goodness” charity foundation and the introduction of neonatal screening for spinal muscular atrophy. At the same time, this poses new challenges for doctors that need to be addressed. The article describes the problems of choosing drugs for gene therapy, assessing their effectiveness, the high expectations among parents of symptomatic patients with neuromuscular diseases receiving gene therapy, the need to create national registries that include an assessment of the effectiveness of therapy. A separate scientific problem is the change in the phenotype of spinal muscular atrophy and Duchenne muscular dystrophy on gene therapy, which requires long-term study and may lead to a change in the standards of patient management.