General issues of spinal muscular atrophy (scientific review). Etiology, clinical features, approaches in rehabilitation and orthopedic treatment

Abstract

Spinal muscular atrophy is a significant medical and social problem and is one of the most common causes of child mortality caused by inherited neuromuscular diseases. The scientific review focuses on etiology, clinical features, as well as approaches in the rehabilitation and orthopedic treatment of patients with spinal muscular atrophy.
 AIM: analysis of world literature on aspects of etiology, pathogenesis, clinical manifestations, approaches in rehabilitation and orthopedic treatment of patients with spinal muscular atrophy.
 Search for literary sources in open electronic databases PubMed and eLIBRARY for the entire period available in these databases.
 Spinal muscular atrophy is a heterogeneous group of hereditary diseases occurring with damage to the motor neurons of the anterior horns of the spinal cord. With predominant clinical signs in the form of muscle weakness, mainly in the lower extremities. Rehabilitation and orthopedic treatment should be carried out with a focus on the musculoskeletal system and related functional disorders
 Analysis of various literary sources shows a rapid increase in the number of publications on spinal muscular atrophy, but a large layer of aspects remains that require clarification and more detailed study. A more detailed study of etiological factors, pathogenesis and clinical features of spinal muscular atrophy will allow a more extensive look at the problems of this disease in order to better understand the possible methods of diagnosis and treatment of patients with this pathology.