Experience of observing patients with Duchenne myopathy
https://doi.org/10.17650/2073-8803-2023-18-2-3-3-31-37
Abstract
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.
Supporting agencies: The work was carried out within the framework of the state assignment of the Ministry of Education and Science of Russia (Research Institute of Medical Genetics, Tomsk National Research Medical Center)
About the Authors
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center
Russian Federation
Russian Federation
Larisa Ivanovna Minaycheva
10 Naberezhnaya reki Ushayki, Tomsk 634050
E. Yu. Petlina
Research Institute of Medical Genetics, Tomsk National Research Medical Center
Russian Federation
Russian Federation
10 Naberezhnaya reki Ushayki, Tomsk 634050
E. G. Ravzhaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center
Russian Federation
Russian Federation
10 Naberezhnaya reki Ushayki, Tomsk 634050
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center
Russian Federation
Russian Federation
10 Naberezhnaya reki Ushayki, Tomsk 634050
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Review
For citations:
Minaycheva L.I., Petlina E.Yu., Ravzhaeva E.G., Seitova G.N. Experience of observing patients with Duchenne myopathy. Russian Journal of Child Neurology. 2023;18(2-3):31-37. (In Russ.) https://doi.org/10.17650/2073-8803-2023-18-2-3-3-31-37
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