A preimplantation genetic testing of monogenic diseases. Description of clinical case

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

Maretina

Kiselev

Ilina

et al. 2022

Annals RAMS

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A preimplantation genetic testing of monogenic diseases. Description of clinical case

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

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

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