Modern View of SMA: Present and Future (Literature Review)

SMA is the most common genetic cause of infant mortality. Without adequate treatment and
ongoing respiratory support, most patients with SMA type 1 die before the age of two. In children
with SMA, it is necessary to monitor respiratory function (during wakefulness and during sleep),
gastrointestinal function and nutritional balance, condition of the musculoskeletal system, oral
hygiene, as well as independent activities and activities in the family. Three drugs have been
developed worldwide for the pathogenetic treatment of SMA, and about four more are at the stage
of clinical trials. In connection with the selection of patients for clinical trials, much attention is paid
to medico-genetic testing. The SMN2 copy number is a selection criterion for patient participation
in clinical trials. Conduction of epidemiological study of SMA and development of an algorithm for
diagnosing SMA and related syndromes will improve the timely detection of patients and ensure an
adequate quality of life.