PREGNANCY WITH SPINAL MUSCULAR ATROPHY

Aivazova Diana Sergeevna, Toropov (Grigoryan) Ksenia Arsenova

Neuromuscular disorders, which manifest as hypotonia and weakness in newborns, can have a variety of causes: damage to the central nervous system (brain or spinal cord), peripheral nervous system or skeletal muscles. One such condition is spinal muscular atrophy (SMA), which is characterized by degeneration of cells in the anterior horn of the spinal cord and motor nuclei of the lower brainstem, leading to progressive muscle weakness and atrophy. The incidence of spinal muscular atrophy ranges from 5 to 13 per 100000 population, and the carriage rate of the mutation that causes the disease ranges from 1:100 to 1:45, with marked interethnic variability. Many women with spinal muscular atrophy types II, III, and IV reach fertile age and can plan a pregnancy. However, to date, there is limited data on the potential impact of pregnancy on the course of SMA and pregnancy outcomes in these patients. In addition, the use of multiple disease-modifying therapies for all types of SMA is expected to lead to an increase in the number of female SMA patients planning pregnancy in the coming years. This article will examine the clinical aspects of spinal muscular atrophy, with an emphasis on the characteristics of pregnancy and childbirth in individuals suffering from this disease. Objective: to analyze the literature on the course, features of management of pregnant women with SMA and the effect of disease-modifying drugs on pregnant women and the fetus while taking them. Materials and methods: analysis of literature from open sources.

Keywords:spinal muscular atrophy, pregnant women with SMA, nusinersen, SMN1 exon 7 deletion