DUCHENNE MUSCULAR DYSTROPHY AND ITS EARLY DIAGNOSIS. RELEVANCE, PROBLEMATICS, POSSIBILITIES, PROSPECTS
Authors:   “Gordey” Charity Foundation designated for providing systemic assistance to patients with Duchenne muscular dystrophy, Moscow, Russia, Gremyakova Т.А. ,   Pediatric High Tech Neuromuscular Center with the Central Clinical Hospital with Polyclinic of the Office of the President of the Russian Federation, Moscow, Russia, Gremyakova О.I. ,   “Gordey” Charity Foundation designated for providing systemic assistance to patients with Duchenne muscular dystrophy, Moscow, Russia, Zinina E.V. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Gnetetskaya V.A. ,   Medical Genetics Center with the MD GROUP, “Mother and Child” Medical Centers’ Network, Moscow, Russia, Komarova M.Yu. ,   Pediatric High Tech Neuromuscular Center with the Central Clinical Hospital with Polyclinic of the Office of the President of the Russian Federation, Moscow, Russia, Stepanov A.A. ,   Pediatric High Tech Neuromuscular Center with the Central Clinical Hospital with Polyclinic of the Office of the President of the Russian Federation, Moscow, Russia, Voronin S.V. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Polyakov A.V. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Zakharova E.Yu. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Vashakmadze N.D. ,   Research Institute of Pediatrics and Children's Healthcare with the Scientific and Clinical Center No. 2 (Central Clinical Hospital of the Russian Academy of Sciences) of the Russian Scientific Surgery Center named after Academician B.V. Petrovskiy with the Russian Academy of Sciences, Moscow, Russia, Kutsev S.I. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Rumyantsev A.G. ,   Pirogov Russian National Research Medical University, Moscow, Russia
Published: June 2024

Duchenne muscular dystrophy (DMD) is an orphan neuromuscular progressive genetic disease that causes muscle breakdown and subsequent loss. Provided early diagnosis, complex standard and pathogenetic therapy significantly changes the trajectory of the disease, making it more benign. Diagnosis of DMD is a two-pillar system with creatine kinase (CK) level measured at the first stage followed by molecular genetic study in case the enzyme threshold values. The quality of genetic diagnostics in Russia has reached the best worldwide standards recently though identifying children with elevated CK levels is yet difficult. The number of diagnosed DMD patients in Russia is significantly lower than the statistically estimated global amount. The average age for diagnosis is not decreasing either. Thus, the median age for DMD and Becker muscular dystrophy (BMD) molecular diagnosis is 7 years and 8 months old. The number of identified children below the age of 2 y/o in Russia has remained consistently low over the past three years. According to the results of a familial cases survey, the correct primary diagnosis of DMD was established in less than half of all cases, 47.1%. The most common incorrect diagnoses were as follows: asymptotic hepatitis (25.1%), perinatal damage to the central nervous system (6.4%), cerebral palsy (2.7%), autism spectrum disorder (ASD) (2.7%) and flat feet, hallux valgus etc. (16% in total). The median duration between the initial DMD manifestation and molecular diagnosis is 3 years and 8 months as yet whilst the age-specific guidelines suggest prescribing standard and pathogenetic therapy during the 2 to 5 y/o period of life. Therefore, the Russia’s average age of DMD diagnosis above 7 y/o lies far beyond the optimal age for initiating of the DMD therapy with the purpose of gaining its maximum possible clinical benefit. The accumulated international and Russian experience demonstrates the possibility for improving of the primary DMD and BMD diagnosis in early preschool age and therefore requires its nationwide introduction.