Current Trends in the Diagnosis, Screening and Treatment of Spinal Muscular Atrophy

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Abstract

Spinal muscular atrophy is one of the most severe hereditary neuromuscular diseases and one of the main causes of infant mortality caused by hereditary diseases. Being a monogenic disease, SMA is characterized by a wide range of phenotypes, which are based on the influence of genetic modifiers of the disease. These modifiers determine the development of a more severe or milder form of the disease and can act as potential targets of disease therapy. To date, there are three certified drugs for the treatment of SMA, the action of two of them is directed at the transcript of the main modifier of the disease — the SMN2 gene. With the advent of effective therapy, the issue of screening newborns for the purpose of early detection of patients and the beginning of treatment of SMA at the presymptomatic phase to achieve maximum effectiveness of drugs becomes relevant. In addition to neonatal screening, population screening plays an important role, which may result in a decrease in the frequency of births of children with SMA.

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About the authors

Marianna A. Maretina

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: marianna0204@gmail.com
ORCID iD: 0000-0002-7091-1171
SPIN-code: 8666-6406

junior research associate

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Anton V. Kiselev

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: ankiselev@yahoo.co.uk
ORCID iD: 0000-0002-2487-2423
SPIN-code: 2849-2020
https://www.researchgate.net/profile/Anton-Kiselev

PhD in Biology

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Arina V. Ilina

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: Arina-Ilina-23@yandex.ru
ORCID iD: 0000-0001-5157-5160

лаборант-исследователь

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Anna A. Egorova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: egorova_anna@yahoo.com
ORCID iD: 0000-0002-6345-7812
SPIN-code: 6055-7399

PhD in Biology

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Andrey S. Glotov

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: anglotov@mail.ru
ORCID iD: 0000-0002-7465-4504
SPIN-code: 1406-0090

PhD in Biology

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Olesya N. Bespalova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: shiggerra@mail.ru
ORCID iD: 0000-0002-6542-5953
SPIN-code: 4732-8089

MD, PhD

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Vladislav S. Baranov

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: baranov@vb2475.spb.edu
ORCID iD: 0000-0002-6518-1207
SPIN-code: 9196-7297

MD, PhD, Corresponding Member of the RAS

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

Igor Yu. Kogan

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Author for correspondence.
Email: ikogan@mail.ru
ORCID iD: 0000-0002-7351-6900
SPIN-code: 6572-6450

MD, PhD, Corresponding Member of the RAS

Russian Federation, 3, Mendeleevskaya line, 199034, Saint-Petersburg

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Supplementary files

Supplementary Files
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1. Fig. 1. Ranges of values for one, two and three copies of the SMN1 gene after PCR-RV. *** — p < 0.05

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2. Fig. 2. Different levels of prevention of spinal muscular atrophy

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