Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns
S. B. Artemyeva,
O. A. Shidlovskaya,
Yu. O. Papina,
A. V. Monakhova,
I. V. Shulyakova,
E. D. Belousova,
O. Yu. Germanenko,
D. V. Vlodavets https://doi.org/10.17650/2222-8721-2024-14-1-86-92
Abstract
Spinal muscular atrophy (SMA) is a hereditary, autosomal recessive disease that debuts at different ages. Neurological symptoms are progressive and lead to significant limitation of life activity and reduced life expectancy. Currently, there are several drugs for the pathogenetical treatment of SMA. This article reflects the evolution of clinicians’ views on the treatment of patients with SMA as scientific evidence from clinical trials and experience in managing patients in real‑world clinical practice accumulates. The biggest debate is about the treatment of patients with 4 copies of the SMN2 gene. An analysis of the “SMA Families” patient registry database was carried out; data on two patients with 4 copies of the SMN2 gene with early onset of the disease were presented.
About the Authors
S. B. Artemyeva
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Svetlana Bronislavovna Artemyeva
2 Taldomskaya St., Moscow 125412
O. A. Shidlovskaya
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
Yu. O. Papina
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
A. V. Monakhova
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
I. V. Shulyakova
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
E. D. Belousova
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
O. Yu. Germanenko
Charitable foundation for helping patients with spinal muscular atrophy and other neuromuscular diseases “SMA Families”
Russian Federation
Russian Federation
Build. 2, 48 Borisovskie Prudy St., Moscow 115408
D. V. Vlodavets
Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
2 Taldomskaya St., Moscow 125412
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Review
For citations:
Artemyeva S.B., Shidlovskaya O.A., Papina Yu.O., Monakhova A.V., Shulyakova I.V., Belousova E.D., Germanenko O.Yu., Vlodavets D.V. Approaches to pathogenetic therapy of spinal muscular atrophy in children and newborns. Neuromuscular Diseases. 2024;14(1):86-92. (In Russ.) https://doi.org/10.17650/2222-8721-2024-14-1-86-92
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