A5032012137- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Prosthetics and Rehabilitation Robotics
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Cardiac Structural Anomalies and Repair
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Viral Infections and Immunology Research
- Trace Elements in Health
- Vitamin D Research Studies
- Mechanical Circulatory Support Devices
- Medical and Biological Ozone Research
- Metabolism and Genetic Disorders
- Graphene and Nanomaterials Applications
- Amino Acid Enzymes and Metabolism
- GDF15 and Related Biomarkers
- Hereditary Neurological Disorders
- Nuclear Structure and Function
Pirogov Russian National Research Medical University
2016-2025
Ministry of Health of the Russian Federation
2024-2025
Moscow Power Engineering Institute
2023
Spinal muscular atrophy 5q (SMA) is one of the most common inherited neuromuscular diseases in children with an autosomal recessive type inheritance. Homozygous deletion exons 7 or 7–8 SMN1 gene encoding motor neuron survival protein responsible for 95 % cases. SMA characterized by a steadily progressive course development paresis, muscle atrophy, loss previously acquired skills, respiratory failure and skeletal deformities. The introduction pathogenetic therapy recent years has...
Introduction . Spinal muscular atrophy 5q is a common childhood disease in the practice of pediatrician and pediatric neurologist. Despite introduction neonatal screening Russian Federation since 2023, there cohort patients who were not included relevance knowledge clinical symptoms SMA remains. Aim To study reasons for delayed diagnosis spinal Federation. Materials methods We analyzed data registry 1452 with SMA: time delay from onset first symptoms, identified erroneous primary diagnoses...
Background. Spinal muscular atrophy 5q (SMA) is a severe genetic neuromuscular disorder, which primarily manifested through musclar weakness. Previously, cognitive development in the natural course of SMA was considered normal. The introduction etiopathogenetic therapy has altered disease trajectory, led to new phenotypes, improved survival rates, and outlined importance studying emotional, cognitive, communicative domains, adaptive behavior patients. Aim. To conduct comprehensive assessment...
Objective : to analyze the safety and evaluate effectiveness of therapy with onasemnogene abeparvovec in patients spinal muscular atrophy real clinical practice based on experience using drug neuromuscular center Research Clinical Pediatric Institute Pirogov Russian National Medical University. Materials methods . Patients received prescription according vital indications by a council physicians Federal institutions (the availability was carried out within framework MAP Program (global...
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 reduced expectancy. Currently, there several drugs for the pathogenetical treatment SMA. This article reflects evolution clinicians’ views on patients with SMA as scientific evidence from clinical trials experience in managing real‑world practice accumulates. The biggest debate about 4 copies SMN2...
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, ability move independently decreases as well respiratory cardiac functions. At various stages of disease, different methods care treatment patients with DMD are used. The clinical effect new target therapy may depend on stage development (ambulatory or non‑ambulatory). To date, there no unified criteria for assessing...
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by mutation in the DMD gene encoding protein dystrophin. As result of developing and progressive muscle damage atrophy, children lose ability to walk, develop respiratory cardiac disorders. The core elements good care standards are early diagnosis, prevention treatment osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, control heart lung function. clinical effect new targeted...
Duchenne muscular dystrophy is one of the most common forms childhood dystrophies. Its incidence 1 in 3.5–6 thousand newborn boys according to various sources. The disease caused by mutation DMD gene coding dystrophin protein, it leads absence or malfunction. characterized proximal muscle weakness and gastrocnemius muscles pseudohypertrophy. In average, patients lose ability walk themselves age 11 become nonambulatory. authors have present modern epidemiological data etiopathogenesis...
We present a case of rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after pathogenic mutation indicative AADCD was found. In most cases, causes marked impairment motor and psycho- speech development is accompanied by severe episodes dystonia – oculogyric crises. The careful attention neurologists, pediatricians, geneticists, gastroenterologists, pulmonologists in cases complex set diverse symptoms determines the success early earliest...
Myotonic dystrophy type 1 (DM1) is one of the most common hereditary forms MD both among adult patients and in pediatric practice. Due to clinical heterogeneity as well polymorphism symptoms different DM1 there a problem insufficient detection this disease. An earlier onset more severe course usually suggest maternal inheritance disease, clearly shown first case described Article. However, other demonstrates phenomenon anticipation that can be traced during transmission on paternal side,...
Introduction. Spinal muscular atrophy (SMA) 5q is a severe hereditary neuromuscular disorder, one of the serious manifestations which development progressive respiratory insufficiency. The administration pathogenetic therapy leads to decreased symptoms failure, reduces risk lethal outcome and fundamental for stabilizing progression physical new motor skills in SMA patients. aim — present experience onasmenogen abeparvovec (OA) gene replacement (GRT) patients with type 1 failure combined...
Проксимальная спинальная мышечная атрофия (СМА), обусловленная мутациями в гене SMN1 (survival motoneuron — выживаемость мотонейронов), локализованном на длинном плече 5 хромосомы (5q), тяжёлое инвалидизирующее нервно-мышечное заболевание с аутосомно-рецессивным типом наследования. Генетическая причина СМА гомозиготные делеции или потеря функции результате мутации [1]. Высокогомологичный резервный ген SMN2 обеспечивает производство только 10% полноценного белка SMN. Доказано, что большее...
Прогрессирующая мышечная дистрофия Дюшенна (МДД) — это редкое хроническое прогрессирующее наследственное Х-сцепленное рецессивное заболевание, вызванное мутациями в гене DMD [1–9].
Introduction. Spinal muscular atrophy (SMA) 5q is a rare genetically determined progressive neuromuscular disorder, the most frequent cause of infant death not long ago. Nowadays onasemnogen abeparvovec as pathogenetic therapy successfully used in clinical practice to combat this disease. Gene replacement (GRT) with for SMA patients may come amid non-target changes cardiovascular system that require early diagnosis and monitoring.
 Objective. To present reports considering children...
Supplement to the 2023 Issue 6 (Volume 102) of Journal PEDIATRIA named after G.N. Speransky. Guidelines for Practitioners: Duchenne Muscular Dystrophy (DMD). Becker (BMD). Early diagnosis. Therapy with use drugs that are currently not registered properly in Russia/by Ministry Healthcare Russia. DOI: 10.24110/0031-403X-2023-102-6-217-256. https://doi.org/10.24110/0031-403X-2023-102-6-217-256