Проявления клинического полиморфизма миотонической дистрофии 1-го типа на примере двух семейных случаев

E.K. Erokhina,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,E.A. Melnik,K.V. Shamtieva,K.V. Vlodavets,D.O. Kazakov,S.B. Artemyeva,Yu.O. Papina,S.A. Kurbatov,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,Academician N.p. Bochkov Research Centre Of Medical Genetics (Rcmg) Of The Ministry Of Science And Higher Education Of The Russian Federation, Moscow, Russia ,Medical Scientific And Educational Center With The M.v. Lomonosov Moscow State University, Moscow, Russia ,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,Pirogov Russian National Research Medical University, Moscow, Russia ,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia ,Scientific And Research Institute For Experimental Biology And Medicine With The Voronezh State Medical University Named After N.n. Burdenko, Voronezh, Russia ,Saratov State Medical University Named After V.i. Razumovsky, Saratov, Russia ,“Healthy Child” Medical Centers’ Network, Voronezh, Russia

doi:10.24110/0031-403x-2024-103-1-174-179

E.K. Erokhina, Research And Clinical Institute Of Pediatrics And Pediatric Surgery Named After Academician Yuri Veltischev With The Pirogov Russian National Research Medical University, Moscow, Russia

https://doi.org/10.24110/0031-403x-2024-103-1-174-179

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Abstract

Myotonic dystrophy type 1 (DM1) is one of the most common hereditary forms of MD both among adult patients and in pediatric practice. Due to clinical heterogeneity as well as polymorphism of symptoms in different forms of DM1 there is a problem of insufficient detection of this disease. An earlier onset and a more severe course usually suggest maternal inheritance of the disease, as is clearly shown in the first clinical case described in the Article. However, the other described case demonstrates the phenomenon of anticipation that can be traced during the transmission of DM1 on the paternal side, which is not typical for DM1. The two presented clinical cases, in addition to muscle symptoms, demonstrate many manifestations from various organs and systems, including heart rhythm disturbances, respiratory failure, breathing disorders during sleep, cognitive and emotional disorders, early cataracts, diabetes mellitus, gastrointestinal tract dysfunction, orthopedic complications. Focal white matter lesions and cortical atrophy identified by neuroimaging using magnetic resonance imaging in patients from the presented cases were not associated with the presence of neuropsychological disorders. The multisystem nature of manifestations confirms the need for increasing awareness of healthcare specialists about this disease as well as the monitoring of patients with DM1 by a multidisciplinary team of experts.

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